biomarker_id biomarker assessed_biomarker_entity assessed_biomarker_entity_id assessed_entity_type condition condition_id exposure_agent exposure_agent_id best_biomarker_role specimen specimen_id loinc_code evidence_source evidence tag vocab_pattern biomarker_controlled_vocab component_group flags BB1264-1 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202669 check_entity BB1265-1 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene neurilemmoma DOID:3192 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202670 check_entity BB1266-1 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene lung adenocarcinoma DOID:3910 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202671 check_entity BB1267-1 presence of rs4740360 in ABL1 ABL1 dbSNP:rs4740360 gene chronic myeloid leukemia DOID:8552 risk blood UBERON:0000178 95550-0 OpenTargets:ENSG00000097007/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4740360 sequence variation in gene ABL1/NCBI:25 202672 check_entity BB1268-1 presence of rs2300149 in PBRM1 PBRM1 dbSNP:rs2300149 gene cancer DOID:162 risk OpenTargets:ENSG00000163939/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2300149 sequence variation in gene PBRM1/NCBI:55193 202673 check_entity BB1269-1 presence of rs62236881 in CHEK2 CHEK2 dbSNP:rs62236881 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 72518-4 OpenTargets:ENSG00000183765/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62236881 sequence variation in gene CHEK2/NCBI:11200 202674 check_entity BB1270-1 presence of rs2184540 in SYK SYK dbSNP:rs2184540 gene chronic lymphocytic leukemia DOID:1040 risk OpenTargets:ENSG00000165025/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2184540 sequence variation in gene SYK/NCBI:6850 202675 check_entity BB1271-1 presence of rs4570704 in BRCA2 BRCA2 dbSNP:rs4570704 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 21640-8 OpenTargets:ENSG00000139618/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4570704 sequence variation in gene BRCA2/NCBI:675 202676 check_entity BB1266-2 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene breast adenocarcinoma DOID:3458 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202677 check_entity BB1272-1 presence of rs76939542 in AURKA AURKA dbSNP:rs76939542 gene prostate adenocarcinoma DOID:2526 risk OpenTargets:ENSG00000087586/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs76939542 sequence variation in gene AURKA/NCBI:6790 202678 check_entity BB1273-1 presence of rs17022006 in CRBN CRBN dbSNP:rs17022006 gene multiple myeloma DOID:9538 risk OpenTargets:ENSG00000113851/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs17022006 sequence variation in gene CRBN/NCBI:51185 202679 check_entity BB1274-1 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene brain cancer DOID:1319 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 202680 check_entity BB1275-1 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202681 check_entity BB1276-1 presence of rs4456287 in MLL MLL dbSNP:rs4456287 gene leukemia DOID:1240 risk blood UBERON:0000178 35454-8 OpenTargets:ENSG00000118058/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4456287 sequence variation in gene MLL/NCBI: 202682 check_entity BB1267-2 presence of rs4740360 in ABL1 ABL1 dbSNP:rs4740360 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 95550-0 OpenTargets:ENSG00000097007/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4740360 sequence variation in gene ABL1/NCBI:25 202683 check_entity BB1277-1 presence of rs4402166 in ARID1A ARID1A dbSNP:rs4402166 gene cancer DOID:162 risk OpenTargets:ENSG00000117713/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4402166 sequence variation in gene ARID1A/NCBI:8289 202684 check_entity BB1278-1 presence of rs2306390 in CDK4 CDK4 dbSNP:rs2306390 gene liposarcoma DOID:3382 risk OpenTargets:ENSG00000135446/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2306390 sequence variation in gene CDK4/NCBI:1019 202685 check_entity BB1279-1 presence of rs2494748 in AKT1 AKT1 dbSNP:rs2494748 gene cancer DOID:162 risk blood UBERON:0000178 42777-3 OpenTargets:ENSG00000142208/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2494748 sequence variation in gene AKT1/NCBI:207 202686 check_entity BB1266-3 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene biliary tract cancer DOID:4607 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202687 check_entity BB1280-1 presence of rs11734754 in PDGFRA PDGFRA dbSNP:rs11734754 gene gastrointestinal stromal tumor DOID:9253 risk blood UBERON:0000178 55092-1 OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA/NCBI:5156 202688 check_entity BB1264-2 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene lung non-small cell carcinoma DOID:3908 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202689 check_entity BB1281-1 presence of rs6778355 in MITF MITF dbSNP:rs6778355 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000187098/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6778355 sequence variation in gene MITF/NCBI:4286 202690 check_entity BB1282-1 presence of rs1799949 in BRCA1 BRCA1 dbSNP:rs1799949 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 21636-6 OpenTargets:ENSG00000012048/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1799949 sequence variation in gene BRCA1/NCBI:672 202691 check_entity BB1283-1 presence of rs6434928 in SF3B1 SF3B1 dbSNP:rs6434928 gene cancer DOID:162 risk blood UBERON:0000178 99129-9 OpenTargets:ENSG00000115524/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6434928 sequence variation in gene SF3B1/NCBI:23451 202692 check_entity BB1284-1 presence of rs881844 in MET MET dbSNP:rs881844 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene MET/NCBI:4233 202693 check_entity BB1285-1 presence of rs2073950 in IL7R IL7R dbSNP:rs2073950 gene acute lymphoblastic leukemia DOID:9952 risk OpenTargets:ENSG00000111252/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2073950 sequence variation in gene IL7R/NCBI:3575 202694 check_entity BB1286-1 presence of rs2497938 in AR AR dbSNP:rs2497938 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 21754-7 OpenTargets:ENSG00000169083/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2497938 sequence variation in gene AR/NCBI:367 202695 check_entity BB1274-2 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 202696 check_entity BB1287-1 presence of rs7785013 in NF2 NF2 dbSNP:rs7785013 gene lung carcinoma DOID:3905 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene NF2/NCBI:4771 202697 check_entity BB1288-1 presence of rs28841391 in STK11 STK11 dbSNP:rs28841391 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 53795-1 OpenTargets:ENSG00000118046/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs28841391 sequence variation in gene STK11/NCBI:6794 202698 check_entity BB1289-1 presence of rs2435355 in RET RET dbSNP:rs2435355 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 21733-1 OpenTargets:ENSG00000165731/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2435355 sequence variation in gene RET/NCBI:5979 202699 check_entity BB1282-2 presence of rs1799949 in BRCA1 BRCA1 dbSNP:rs1799949 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 21636-6 OpenTargets:ENSG00000012048/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1799949 sequence variation in gene BRCA1/NCBI:672 202700 check_entity BB1268-2 presence of rs2300149 in PBRM1 PBRM1 dbSNP:rs2300149 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000163939/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2300149 sequence variation in gene PBRM1/NCBI:55193 202701 check_entity BB1290-1 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202702 check_entity BB1291-1 presence of rs13337626 in TSC2 TSC2 dbSNP:rs13337626 gene lymphangioleiomyomatosis DOID:3319 risk blood UBERON:0000178 48980-7 OpenTargets:ENSG00000103197/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13337626 sequence variation in gene TSC2/NCBI:7249 202703 check_entity BB1292-1 presence of rs3879293 in MDM2 MDM2 dbSNP:rs3879293 gene testicular cancer DOID:2998 risk tissue UBERON:0000479 93805-0 OpenTargets:ENSG00000135679/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3879293 sequence variation in gene MDM2/NCBI:4193 202704 check_entity BB1293-1 presence of rs2800278 in DDR2 DDR2 dbSNP:rs2800278 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000162733/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2800278 sequence variation in gene DDR2/NCBI:4921 202705 check_entity BB1294-1 presence of rs200368423 in NOTCH2 NOTCH2 dbSNP:rs200368423 gene acute myeloid leukemia DOID:9119 risk OpenTargets:ENSG00000134250/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs200368423 sequence variation in gene NOTCH2/NCBI:4853 202706 check_entity BB1295-1 presence of rs1871859 in ERBB2 ERBB2 dbSNP:rs1871859 gene breast adenocarcinoma DOID:3458 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000091831/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1871859 sequence variation in gene ERBB2/NCBI:2064 202707 check_entity BB1296-1 presence of rs357564 in PTCH1 PTCH1 dbSNP:rs357564 gene basal cell carcinoma DOID:2513 risk OpenTargets:ENSG00000185920/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs357564 sequence variation in gene PTCH1/NCBI:5727 202708 check_entity BB1297-1 presence of rs34969716 in TPMT TPMT dbSNP:rs34969716 gene cancer DOID:162 risk blood UBERON:0000178 100663-4 OpenTargets:ENSG00000137364/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs34969716 sequence variation in gene TPMT/NCBI:7172 202709 check_entity BB1266-4 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene stomach carcinoma DOID:5517 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202710 check_entity BB1298-1 presence of rs1720727 in B2M B2M dbSNP:rs1720727 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000166710/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1720727 sequence variation in gene B2M/NCBI:567 202711 check_entity BB1299-1 presence of rs350912 in MAP2K2 MAP2K2 dbSNP:rs350912 gene skin melanoma DOID:8923 risk blood UBERON:0000178 60496-7 OpenTargets:ENSG00000126934/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs350912 sequence variation in gene MAP2K2/NCBI:5605 202712 check_entity BB1300-1 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene malignant peripheral nerve sheath tumor DOID:5940 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202713 check_entity BB1301-1 presence of rs1558001 in HGF HGF dbSNP:rs1558001 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000019991/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1558001 sequence variation in gene HGF/NCBI:3082 202714 check_entity BB1302-1 presence of rs218265 in KIT KIT dbSNP:rs218265 gene skin melanoma DOID:8923 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 202715 check_entity BB1290-2 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202716 check_entity BB1303-1 presence of rs7785013 in MET MET dbSNP:rs7785013 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene MET/NCBI:4233 202717 check_entity BB1266-5 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene colorectal adenocarcinoma DOID:0050861 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202718 check_entity BB1290-3 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202719 check_entity BB1271-2 presence of rs4570704 in BRCA2 BRCA2 dbSNP:rs4570704 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 21640-8 OpenTargets:ENSG00000139618/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4570704 sequence variation in gene BRCA2/NCBI:675 202720 check_entity BB1304-1 presence of rs530311131 in VHL VHL dbSNP:rs530311131 gene renal carcinoma DOID:4451 risk blood UBERON:0000178 34502-5 OpenTargets:ENSG00000134086/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs530311131 sequence variation in gene VHL/NCBI:7428 202721 check_entity BB1275-2 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene skin melanoma DOID:8923 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202722 check_entity BB1300-2 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene plexiform neurofibroma DOID:5151 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202723 check_entity BB1280-2 presence of rs11734754 in PDGFRA PDGFRA dbSNP:rs11734754 gene brain cancer DOID:1319 risk blood UBERON:0000178 55092-1 OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA/NCBI:5156 202724 check_entity BB1305-1 presence of rs74911261 in RAD50 RAD50 dbSNP:rs74911261 gene cancer DOID:162 risk OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene RAD50/NCBI:10111 202725 check_entity BB1306-1 presence of rs9332739 in SLC44A4 SLC44A4 dbSNP:rs9332739 gene prostate adenocarcinoma DOID:2526 risk OpenTargets:ENSG00000204385/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9332739 sequence variation in gene SLC44A4/NCBI:80736 202726 check_entity BB1307-1 presence of rs12667978 in SMO SMO dbSNP:rs12667978 gene medulloblastoma DOID:0050902 risk OpenTargets:ENSG00000128602/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12667978 sequence variation in gene SMO/NCBI:6608 202727 check_entity BB1301-2 presence of rs1558001 in HGF HGF dbSNP:rs1558001 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000019991/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1558001 sequence variation in gene HGF/NCBI:3082 202728 check_entity BB1308-1 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene liver cancer DOID:3571 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 202729 check_entity BB1309-1 presence of rs2546110 in APC APC dbSNP:rs2546110 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 20990-8 OpenTargets:ENSG00000134982/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2546110 sequence variation in gene APC/NCBI:324 202730 check_entity BB1275-3 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202731 check_entity BB1289-2 presence of rs2435355 in RET RET dbSNP:rs2435355 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 21733-1 OpenTargets:ENSG00000165731/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2435355 sequence variation in gene RET/NCBI:5979 202732 check_entity BB1290-4 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202733 check_entity BB1310-1 presence of rs201233223 in SUZ12 SUZ12 dbSNP:rs201233223 gene cancer DOID:162 risk OpenTargets:ENSG00000178691/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs201233223 sequence variation in gene SUZ12/NCBI:23512 202734 check_entity BB1311-1 presence of rs12072739 in DPYD DPYD dbSNP:rs12072739 gene cancer DOID:162 risk blood UBERON:0000178 45284-7 OpenTargets:ENSG00000188641/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12072739 sequence variation in gene DPYD/NCBI:1806 202735 check_entity BB1312-1 presence of rs663474 in ROS1 ROS1 dbSNP:rs663474 gene lung adenocarcinoma DOID:3910 risk OpenTargets:ENSG00000047936/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs663474 sequence variation in gene ROS1/NCBI:6098 202736 check_entity BB1313-1 presence of rs62505473 in FGFR1 FGFR1 dbSNP:rs62505473 gene head and neck cancer DOID:11934 risk blood UBERON:0000178 42785-6 OpenTargets:ENSG00000077782/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62505473 sequence variation in gene FGFR1/NCBI:2260 202737 check_entity BB1308-2 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene cancer DOID:162 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 202738 check_entity BB1314-1 presence of rs74911261 in ATM ATM dbSNP:rs74911261 gene lymphoma DOID:0060058 risk blood UBERON:0000178 21624-2 OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene ATM/NCBI:472 202739 check_entity BB1265-2 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene malignant mesothelioma DOID:1790 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202740 check_entity BB1315-1 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202741 check_entity BB1280-3 presence of rs11734754 in PDGFRA PDGFRA dbSNP:rs11734754 gene skin melanoma DOID:8923 risk blood UBERON:0000178 55092-1 OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA/NCBI:5156 202742 check_entity BB1300-3 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene brain cancer DOID:1319 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202743 check_entity BB1316-1 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202744 check_entity BB1317-1 presence of rs74634457 in MAP2K1 MAP2K1 dbSNP:rs74634457 gene skin melanoma DOID:8923 risk blood UBERON:0000178 60495-9 OpenTargets:ENSG00000169032/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74634457 sequence variation in gene MAP2K1/NCBI:5604 202745 check_entity BB1318-1 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 202746 check_entity BB1290-5 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202747 check_entity BB1319-1 presence of rs705702 in ERBB3 ERBB3 dbSNP:rs705702 gene cancer DOID:162 risk OpenTargets:ENSG00000065361/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs705702 sequence variation in gene ERBB3/NCBI:2065 202748 check_entity BB1274-3 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene lung non-small cell carcinoma DOID:3908 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 202749 check_entity BB1320-1 presence of rs4148325 in UGT1A1 UGT1A1 dbSNP:rs4148325 gene cancer DOID:162 risk blood UBERON:0000178 34509-0 OpenTargets:ENSG00000241635/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4148325 sequence variation in gene UGT1A1/NCBI:54658 202750 check_entity BB1321-1 presence of rs6784615 in BAP1 BAP1 dbSNP:rs6784615 gene malignant mesothelioma DOID:1790 risk OpenTargets:ENSG00000163930/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6784615 sequence variation in gene BAP1/NCBI:8314 202751 check_entity BB1265-3 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene meningioma DOID:3565 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202752 check_entity BB1322-1 presence of rs76428106 in FLT3-ITD FLT3-ITD dbSNP:rs76428106 gene acute myeloid leukemia DOID:9119 risk OpenTargets:ENSG00000122025/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs76428106 sequence variation in gene FLT3-ITD/NCBI: 202753 check_entity BB1323-1 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene cancer DOID:162 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202754 check_entity BB1315-2 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202755 check_entity BB1280-4 presence of rs11734754 in PDGFRA PDGFRA dbSNP:rs11734754 gene renal carcinoma DOID:4451 risk blood UBERON:0000178 55092-1 OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA/NCBI:5156 202756 check_entity BB1324-1 presence of rs4740360 in ABL1-BCR ABL1-BCR dbSNP:rs4740360 gene chronic myeloid leukemia DOID:8552 risk OpenTargets:ENSG00000097007/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4740360 sequence variation in gene ABL1-BCR/NCBI: 202757 check_entity BB1325-1 presence of rs9825207 in ATR ATR dbSNP:rs9825207 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000175054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9825207 sequence variation in gene ATR/NCBI:545 202758 check_entity BB1326-1 presence of rs72922276 in JAK1 JAK1 dbSNP:rs72922276 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000162434/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs72922276 sequence variation in gene JAK1/NCBI:3716 202759 check_entity BB1317-2 presence of rs74634457 in MAP2K1 MAP2K1 dbSNP:rs74634457 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 60495-9 OpenTargets:ENSG00000169032/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74634457 sequence variation in gene MAP2K1/NCBI:5604 202760 check_entity BB1327-1 presence of rs6511720 in SMARCA4 SMARCA4 dbSNP:rs6511720 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000127616/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6511720 sequence variation in gene SMARCA4/NCBI:6597 202761 check_entity BB1328-1 presence of rs1333037 in CDKN2A CDKN2A dbSNP:rs1333037 gene cancer DOID:162 risk blood UBERON:0000178 21614-3 OpenTargets:ENSG00000147889/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1333037 sequence variation in gene CDKN2A/NCBI:1029 202762 check_entity BB1329-1 presence of rs191425998 in FBXW7 FBXW7 dbSNP:rs191425998 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 100028-0 OpenTargets:ENSG00000109670/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs191425998 sequence variation in gene FBXW7/NCBI:55294 202763 check_entity BB1275-4 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202764 check_entity BB1278-2 presence of rs2306390 in CDK4 CDK4 dbSNP:rs2306390 gene lymphoma DOID:0060058 risk OpenTargets:ENSG00000135446/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2306390 sequence variation in gene CDK4/NCBI:1019 202765 check_entity BB1315-3 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene brain cancer DOID:1319 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202766 check_entity BB1291-2 presence of rs13337626 in TSC2 TSC2 dbSNP:rs13337626 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 48980-7 OpenTargets:ENSG00000103197/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13337626 sequence variation in gene TSC2/NCBI:7249 202767 check_entity BB1330-1 presence of rs62104483 in CCNE1 CCNE1 dbSNP:rs62104483 gene cancer DOID:162 risk OpenTargets:ENSG00000105173/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62104483 sequence variation in gene CCNE1/NCBI:898 202768 check_entity BB1323-2 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene brain cancer DOID:1319 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202769 check_entity BB1331-1 presence of rs38859 in MET MET dbSNP:rs38859 gene renal carcinoma DOID:4451 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202770 check_entity BB1266-6 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene endometrial carcinoma DOID:2871 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202771 check_entity BB1318-2 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene liposarcoma DOID:3382 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 202772 check_entity BB1267-3 presence of rs4740360 in ABL1 ABL1 dbSNP:rs4740360 gene cancer DOID:162 risk blood UBERON:0000178 95550-0 OpenTargets:ENSG00000097007/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4740360 sequence variation in gene ABL1/NCBI:25 202773 check_entity BB1317-3 presence of rs74634457 in MAP2K1 MAP2K1 dbSNP:rs74634457 gene cancer DOID:162 risk blood UBERON:0000178 60495-9 OpenTargets:ENSG00000169032/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74634457 sequence variation in gene MAP2K1/NCBI:5604 202774 check_entity BB1265-4 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene breast adenocarcinoma DOID:3458 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202775 check_entity BB1332-1 presence of rs9873179 in PIK3CB PIK3CB dbSNP:rs9873179 gene head and neck squamous cell carcinoma DOID:5520 risk OpenTargets:ENSG00000051382/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9873179 sequence variation in gene PIK3CB/NCBI:5291 202776 check_entity BB1333-1 presence of rs193181528 in CD274 CD274 dbSNP:rs193181528 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000120217/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs193181528 sequence variation in gene CD274/NCBI:29126 202777 check_entity BB1277-2 presence of rs4402166 in ARID1A ARID1A dbSNP:rs4402166 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000117713/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4402166 sequence variation in gene ARID1A/NCBI:8289 202778 check_entity BB1264-3 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene head and neck cancer DOID:11934 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202779 check_entity BB1300-4 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene skin melanoma DOID:8923 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202780 check_entity BB1334-1 presence of rs3829814 in PTEN PTEN dbSNP:rs3829814 gene skin melanoma DOID:8923 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene PTEN/NCBI:5728 202781 check_entity BB1335-1 presence of rs527697748 in MKI67 MKI67 dbSNP:rs527697748 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000148773/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs527697748 sequence variation in gene MKI67/NCBI:4288 202782 check_entity BB1336-1 presence of rs744617 in PML-RARA PML-RARA dbSNP:rs744617 gene acute myeloid leukemia DOID:9119 risk OpenTargets:ENSG00000140464/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs744617 sequence variation in gene PML-RARA/NCBI: 202783 check_entity BB1337-1 presence of rs2768762 in NTRK1 NTRK1 dbSNP:rs2768762 gene cancer DOID:162 risk tissue UBERON:0000479 93813-4 OpenTargets:ENSG00000198400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2768762 sequence variation in gene NTRK1/NCBI:4914 202784 check_entity BB1275-5 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene head and neck squamous cell carcinoma DOID:5520 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202785 check_entity BB1338-1 presence of rs13277355 in MYC MYC dbSNP:rs13277355 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21750-5 OpenTargets:ENSG00000136997/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13277355 sequence variation in gene MYC/NCBI:4609 202786 check_entity BB1339-1 presence of rs987106 in IL7R IL7R dbSNP:rs987106 gene acute lymphoblastic leukemia DOID:9952 risk OpenTargets:ENSG00000168685/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs987106 sequence variation in gene IL7R/NCBI:3575 202787 check_entity BB1284-2 presence of rs881844 in MET MET dbSNP:rs881844 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene MET/NCBI:4233 202788 check_entity BB1290-6 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene lung non-small cell carcinoma DOID:3908 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202789 check_entity BB1340-1 presence of rs107155 in GNA11 GNA11 dbSNP:rs107155 gene skin melanoma DOID:8923 risk blood UBERON:0000178 100020-7 OpenTargets:ENSG00000088256/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs107155 sequence variation in gene GNA11/NCBI:2767 202790 check_entity BB1341-1 presence of rs35347644 in KCNJ5 KCNJ5 dbSNP:rs35347644 gene adrenal adenoma DOID:656 risk OpenTargets:ENSG00000120457/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs35347644 sequence variation in gene KCNJ5/NCBI:3762 202791 check_entity BB1315-4 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene skin melanoma DOID:8923 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202792 check_entity BB1266-7 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene cancer DOID:162 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202793 check_entity BB1266-8 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene lung carcinoma DOID:3905 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202794 check_entity BB1331-2 presence of rs38859 in MET MET dbSNP:rs38859 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202795 check_entity BB1331-3 presence of rs38859 in MET MET dbSNP:rs38859 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202796 check_entity BB1342-1 presence of rs1050828 in G6PD G6PD dbSNP:rs1050828 gene cancer DOID:162 risk blood UBERON:0000178 21680-4 OpenTargets:ENSG00000160211/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1050828 sequence variation in gene G6PD/NCBI:2539 202797 check_entity BB1316-2 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202798 check_entity BB1343-1 presence of rs11867902 in TOP2A TOP2A dbSNP:rs11867902 gene breast adenocarcinoma DOID:3458 risk tissue UBERON:0000479 63068-1 OpenTargets:ENSG00000131747/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11867902 sequence variation in gene TOP2A/NCBI:7153 202799 check_entity BB1344-1 presence of rs76428106 in FLT3 FLT3 dbSNP:rs76428106 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 47958-4 OpenTargets:ENSG00000122025/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs76428106 sequence variation in gene FLT3/NCBI:2322 202800 check_entity BB1345-1 presence of rs6729895 in IDH1 IDH1 dbSNP:rs6729895 gene brain cancer DOID:1319 risk blood UBERON:0000178 100022-3 OpenTargets:ENSG00000138413/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6729895 sequence variation in gene IDH1/NCBI:3417 202801 check_entity BB1346-1 presence of rs265548 in JAK3 JAK3 dbSNP:rs265548 gene lymphoma DOID:0060058 risk blood UBERON:0000178 47963-4 OpenTargets:ENSG00000105639/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs265548 sequence variation in gene JAK3/NCBI:3718 202802 check_entity BB1347-1 presence of rs4417855 in BCL6 BCL6 dbSNP:rs4417855 gene lymphoma DOID:0060058 risk blood UBERON:0000178 21746-3 OpenTargets:ENSG00000113916/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4417855 sequence variation in gene BCL6/NCBI:604 202803 check_entity BB1348-1 presence of rs2842198 in MPL MPL dbSNP:rs2842198 gene leukemia DOID:1240 risk blood UBERON:0000178 56141-5 OpenTargets:ENSG00000117400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2842198 sequence variation in gene MPL/NCBI:4352 202804 check_entity BB1307-2 presence of rs12667978 in SMO SMO dbSNP:rs12667978 gene basal cell carcinoma DOID:2513 risk OpenTargets:ENSG00000128602/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12667978 sequence variation in gene SMO/NCBI:6608 202805 check_entity BB1338-2 presence of rs13277355 in MYC MYC dbSNP:rs13277355 gene neuroblastoma DOID:769 risk blood UBERON:0000178 21750-5 OpenTargets:ENSG00000136997/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13277355 sequence variation in gene MYC/NCBI:4609 202806 check_entity BB1329-2 presence of rs191425998 in FBXW7 FBXW7 dbSNP:rs191425998 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 100028-0 OpenTargets:ENSG00000109670/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs191425998 sequence variation in gene FBXW7/NCBI:55294 202807 check_entity BB1349-1 presence of rs7163762 in IDH2 IDH2 dbSNP:rs7163762 gene leukemia DOID:1240 risk blood UBERON:0000178 100023-1 OpenTargets:ENSG00000182054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7163762 sequence variation in gene IDH2/NCBI:3418 202808 check_entity BB1264-4 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202809 check_entity BB1350-1 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene anaplastic oligodendroglioma DOID:7154 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 202810 check_entity BB1331-4 presence of rs38859 in MET MET dbSNP:rs38859 gene liver cancer DOID:3571 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202811 check_entity BB1314-2 presence of rs74911261 in ATM ATM dbSNP:rs74911261 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 21624-2 OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene ATM/NCBI:472 202812 check_entity BB1351-1 presence of rs56335522 in ERBB4 ERBB4 dbSNP:rs56335522 gene lung adenocarcinoma DOID:3910 risk OpenTargets:ENSG00000178568/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56335522 sequence variation in gene ERBB4/NCBI:2066 202813 check_entity BB1266-9 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene ovarian carcinoma DOID:4001 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202814 check_entity BB1352-1 presence of rs34523089 in RNF43 RNF43 dbSNP:rs34523089 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000108375/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs34523089 sequence variation in gene RNF43/NCBI:54894 202815 check_entity BB1338-3 presence of rs13277355 in MYC MYC dbSNP:rs13277355 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 21750-5 OpenTargets:ENSG00000136997/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13277355 sequence variation in gene MYC/NCBI:4609 202816 check_entity BB1315-5 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202817 check_entity BB1315-6 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene head and neck squamous cell carcinoma DOID:5520 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202818 check_entity BB1302-2 presence of rs218265 in KIT KIT dbSNP:rs218265 gene gastrointestinal stromal tumor DOID:9253 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 202819 check_entity BB1353-1 presence of rs75495843 in MYD88 MYD88 dbSNP:rs75495843 gene macroglobulinemia DOID:9080 risk blood UBERON:0000178 82140-5 OpenTargets:ENSG00000172936/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs75495843 sequence variation in gene MYD88/NCBI:4615 202820 check_entity BB1266-10 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene lung non-small cell carcinoma DOID:3908 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202821 check_entity BB1345-2 presence of rs6729895 in IDH1 IDH1 dbSNP:rs6729895 gene biliary tract cancer DOID:4607 risk blood UBERON:0000178 100022-3 OpenTargets:ENSG00000138413/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6729895 sequence variation in gene IDH1/NCBI:3417 202822 check_entity BB1280-5 presence of rs11734754 in PDGFRA PDGFRA dbSNP:rs11734754 gene leukemia DOID:1240 risk blood UBERON:0000178 55092-1 OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA/NCBI:5156 202823 check_entity BB1323-3 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202824 check_entity BB1333-2 presence of rs193181528 in CD274 CD274 dbSNP:rs193181528 gene cancer DOID:162 risk OpenTargets:ENSG00000120217/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs193181528 sequence variation in gene CD274/NCBI:29126 202825 check_entity BB1264-5 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene head and neck squamous cell carcinoma DOID:5520 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202826 check_entity BB1354-1 presence of rs4899037 in PRKCH PRKCH dbSNP:rs4899037 gene chronic myeloid leukemia DOID:8552 risk OpenTargets:ENSG00000027075/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4899037 sequence variation in gene PRKCH/NCBI:5583 202827 check_entity BB1355-1 presence of rs2584124 in NTRK3 NTRK3 dbSNP:rs2584124 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000140538/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2584124 sequence variation in gene NTRK3/NCBI:4916 202828 check_entity BB1356-1 presence of rs9813107 in CTNNB1 CTNNB1 dbSNP:rs9813107 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 21659-8 OpenTargets:ENSG00000168036/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9813107 sequence variation in gene CTNNB1/NCBI:1499 202829 check_entity BB1300-5 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202830 check_entity BB1357-1 presence of rs35756741 in CDKN1B CDKN1B dbSNP:rs35756741 gene cancer DOID:162 risk blood UBERON:0000178 75388-9 OpenTargets:ENSG00000111276/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs35756741 sequence variation in gene CDKN1B/NCBI:1027 202831 check_entity BB1302-3 presence of rs218265 in KIT KIT dbSNP:rs218265 gene chronic eosinophilic leukemia DOID:0080367 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 202832 check_entity BB1264-6 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202833 check_entity BB1318-3 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 202834 check_entity BB1316-3 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene cholangiocarcinoma DOID:4947 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202835 check_entity BB1279-2 presence of rs2494748 in AKT1 AKT1 dbSNP:rs2494748 gene skin melanoma DOID:8923 risk blood UBERON:0000178 42777-3 OpenTargets:ENSG00000142208/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2494748 sequence variation in gene AKT1/NCBI:207 202836 check_entity BB1358-1 presence of rs17758695 in BCL2 BCL2 dbSNP:rs17758695 gene multiple myeloma DOID:9538 risk blood UBERON:0000178 21095-5 OpenTargets:ENSG00000171791/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs17758695 sequence variation in gene BCL2/NCBI:596 202837 check_entity BB1337-2 presence of rs2768762 in NTRK1 NTRK1 dbSNP:rs2768762 gene lung adenocarcinoma DOID:3910 risk tissue UBERON:0000479 93813-4 OpenTargets:ENSG00000198400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2768762 sequence variation in gene NTRK1/NCBI:4914 202838 check_entity BB1349-2 presence of rs7163762 in IDH2 IDH2 dbSNP:rs7163762 gene biliary tract cancer DOID:4607 risk blood UBERON:0000178 100023-1 OpenTargets:ENSG00000182054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7163762 sequence variation in gene IDH2/NCBI:3418 202839 check_entity BB1359-1 presence of rs998584 in VEGFA VEGFA dbSNP:rs998584 gene liver cancer DOID:3571 risk blood UBERON:0000178 94470-2 OpenTargets:ENSG00000112715/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs998584 sequence variation in gene VEGFA/NCBI:7422 202840 check_entity BB1360-1 presence of rs3829814 in MET MET dbSNP:rs3829814 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene MET/NCBI:4233 202841 check_entity BB1361-1 presence of rs3176336 in CDKN1A CDKN1A dbSNP:rs3176336 gene cancer DOID:162 risk OpenTargets:ENSG00000124762/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3176336 sequence variation in gene CDKN1A/NCBI:1026 202842 check_entity BB1350-2 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene cancer DOID:162 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 202843 check_entity BB1362-1 presence of rs71487219 in HRAS HRAS dbSNP:rs71487219 gene cervix carcinoma DOID:2893 risk blood UBERON:0000178 21698-6 OpenTargets:ENSG00000174775/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs71487219 sequence variation in gene HRAS/NCBI:3265 202844 check_entity BB1363-1 presence of rs3124592 in NOTCH1 NOTCH1 dbSNP:rs3124592 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 99126-5 OpenTargets:ENSG00000148400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3124592 sequence variation in gene NOTCH1/NCBI:4851 202845 check_entity BB1364-1 presence of rs6916554 in SLC29A1 SLC29A1 dbSNP:rs6916554 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000112759/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6916554 sequence variation in gene SLC29A1/NCBI:2030 202846 check_entity BB1365-1 presence of rs2890652 in LRP1B LRP1B dbSNP:rs2890652 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000168702/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2890652 sequence variation in gene LRP1B/NCBI:53353 202847 check_entity BB1333-3 presence of rs193181528 in CD274 CD274 dbSNP:rs193181528 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000120217/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs193181528 sequence variation in gene CD274/NCBI:29126 202848 check_entity BB1315-7 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202849 check_entity BB1307-3 presence of rs12667978 in SMO SMO dbSNP:rs12667978 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000128602/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12667978 sequence variation in gene SMO/NCBI:6608 202850 check_entity BB1316-4 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202851 check_entity BB1275-6 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene cancer DOID:162 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202852 check_entity BB1323-4 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202853 check_entity BB1300-6 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene leukemia DOID:1240 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202854 check_entity BB1296-2 presence of rs357564 in PTCH1 PTCH1 dbSNP:rs357564 gene medulloblastoma DOID:0050902 risk OpenTargets:ENSG00000185920/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs357564 sequence variation in gene PTCH1/NCBI:5727 202855 check_entity BB1366-1 presence of rs12093576 in AKT3 AKT3 dbSNP:rs12093576 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000117020/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12093576 sequence variation in gene AKT3/NCBI:10000 202856 check_entity BB1288-2 presence of rs28841391 in STK11 STK11 dbSNP:rs28841391 gene cancer DOID:162 risk blood UBERON:0000178 53795-1 OpenTargets:ENSG00000118046/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs28841391 sequence variation in gene STK11/NCBI:6794 202857 check_entity BB1350-3 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene stomach carcinoma DOID:5517 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 202858 check_entity BB1316-5 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202859 check_entity BB1321-2 presence of rs6784615 in BAP1 BAP1 dbSNP:rs6784615 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000163930/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6784615 sequence variation in gene BAP1/NCBI:8314 202860 check_entity BB1367-1 presence of rs73047773 in ERCC1 ERCC1 dbSNP:rs73047773 gene lung carcinoma DOID:3905 risk tissue UBERON:0000479 69572-6 OpenTargets:ENSG00000012061/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73047773 sequence variation in gene ERCC1/NCBI:2067 202861 check_entity BB1368-1 presence of rs347896 in BRD4-C15orf55 BRD4-C15orf55 dbSNP:rs347896 gene NUT midline carcinoma DOID:0060463 risk OpenTargets:ENSG00000184507/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs347896 sequence variation in gene BRD4-C15orf55/NCBI: 202862 check_entity BB1323-5 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202863 check_entity BB1369-1 presence of rs12714871 in RAF1 RAF1 dbSNP:rs12714871 gene osteosarcoma DOID:3347 risk blood UBERON:0000178 82537-2 OpenTargets:ENSG00000132155/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12714871 sequence variation in gene RAF1/NCBI:5894 202864 check_entity BB1318-4 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 202865 check_entity BB1323-6 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene skin melanoma DOID:8923 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202866 check_entity BB1370-1 presence of rs2298650 in CBL CBL dbSNP:rs2298650 gene leukemia DOID:1240 risk OpenTargets:ENSG00000110395/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2298650 sequence variation in gene CBL/NCBI:867 202867 check_entity BB1328-2 presence of rs1333037 in CDKN2A CDKN2A dbSNP:rs1333037 gene skin melanoma DOID:8923 risk blood UBERON:0000178 21614-3 OpenTargets:ENSG00000147889/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1333037 sequence variation in gene CDKN2A/NCBI:1029 202868 check_entity BB1371-1 presence of rs56337234 in FGFR3 FGFR3 dbSNP:rs56337234 gene multiple myeloma DOID:9538 risk blood UBERON:0000178 21676-2 OpenTargets:ENSG00000068078/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56337234 sequence variation in gene FGFR3/NCBI:2261 202869 check_entity BB1345-3 presence of rs6729895 in IDH1 IDH1 dbSNP:rs6729895 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 100022-3 OpenTargets:ENSG00000138413/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6729895 sequence variation in gene IDH1/NCBI:3417 202870 check_entity BB1372-1 presence of rs2073950 in SH2B3 SH2B3 dbSNP:rs2073950 gene leukemia DOID:1240 risk OpenTargets:ENSG00000111252/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2073950 sequence variation in gene SH2B3/NCBI:10019 202871 check_entity BB1373-1 presence of rs1004467 in CYP17A1 CYP17A1 dbSNP:rs1004467 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 77057-8 OpenTargets:ENSG00000148795/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1004467 sequence variation in gene CYP17A1/NCBI:1586 202872 check_entity BB1294-2 presence of rs200368423 in NOTCH2 NOTCH2 dbSNP:rs200368423 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000134250/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs200368423 sequence variation in gene NOTCH2/NCBI:4853 202873 check_entity BB1371-2 presence of rs56337234 in FGFR3 FGFR3 dbSNP:rs56337234 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 21676-2 OpenTargets:ENSG00000068078/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56337234 sequence variation in gene FGFR3/NCBI:2261 202874 check_entity BB1374-1 presence of rs4802073 in AKT2 AKT2 dbSNP:rs4802073 gene cancer DOID:162 risk OpenTargets:ENSG00000105221/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4802073 sequence variation in gene AKT2/NCBI:208 202875 check_entity BB1290-7 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene liver cancer DOID:3571 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202876 check_entity BB1264-7 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene brain cancer DOID:1319 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 202877 check_entity BB1375-1 presence of rs1887428 in JAK2 JAK2 dbSNP:rs1887428 gene skin melanoma DOID:8923 risk blood UBERON:0000178 43399-5 OpenTargets:ENSG00000096968/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1887428 sequence variation in gene JAK2/NCBI:3717 202878 check_entity BB1302-4 presence of rs218265 in KIT KIT dbSNP:rs218265 gene thymic carcinoma DOID:3284 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 202879 check_entity BB1376-1 presence of rs56313227 in HDAC2 HDAC2 dbSNP:rs56313227 gene prostate adenocarcinoma DOID:2526 risk OpenTargets:ENSG00000196591/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56313227 sequence variation in gene HDAC2/NCBI:3066 202880 check_entity BB1324-2 presence of rs4740360 in ABL1-BCR ABL1-BCR dbSNP:rs4740360 gene acute lymphoblastic leukemia DOID:9952 risk OpenTargets:ENSG00000097007/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4740360 sequence variation in gene ABL1-BCR/NCBI: 202881 check_entity BB1288-3 presence of rs28841391 in STK11 STK11 dbSNP:rs28841391 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 53795-1 OpenTargets:ENSG00000118046/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs28841391 sequence variation in gene STK11/NCBI:6794 202882 check_entity BB1323-7 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202883 check_entity BB1349-3 presence of rs7163762 in IDH2 IDH2 dbSNP:rs7163762 gene cholangiocarcinoma DOID:4947 risk blood UBERON:0000178 100023-1 OpenTargets:ENSG00000182054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7163762 sequence variation in gene IDH2/NCBI:3418 202884 check_entity BB1375-2 presence of rs1887428 in JAK2 JAK2 dbSNP:rs1887428 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 43399-5 OpenTargets:ENSG00000096968/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1887428 sequence variation in gene JAK2/NCBI:3717 202885 check_entity BB1313-2 presence of rs62505473 in FGFR1 FGFR1 dbSNP:rs62505473 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 42785-6 OpenTargets:ENSG00000077782/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62505473 sequence variation in gene FGFR1/NCBI:2260 202886 check_entity BB1290-8 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene cervical squamous cell carcinoma DOID:3744 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202887 check_entity BB1323-8 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202888 check_entity BB1265-5 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene ovarian carcinoma DOID:4001 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202889 check_entity BB1308-3 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene multiple myeloma DOID:9538 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 202890 check_entity BB1377-1 presence of rs2435355 in RET-TPCN1 RET-TPCN1 dbSNP:rs2435355 gene thyroid cancer DOID:1781 risk OpenTargets:ENSG00000165731/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2435355 sequence variation in gene RET-TPCN1/NCBI: 202891 check_entity BB1378-1 presence of rs881844 in PTEN PTEN dbSNP:rs881844 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene PTEN/NCBI:5728 202892 check_entity BB1275-7 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202893 check_entity BB1286-2 presence of rs2497938 in AR AR dbSNP:rs2497938 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 21754-7 OpenTargets:ENSG00000169083/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2497938 sequence variation in gene AR/NCBI:367 202894 check_entity BB1331-5 presence of rs38859 in MET MET dbSNP:rs38859 gene lung non-small cell carcinoma DOID:3908 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202895 check_entity BB1300-7 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene neuroblastoma DOID:769 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 202896 check_entity BB1379-1 presence of rs3743861 in FANCA FANCA dbSNP:rs3743861 gene prostate adenocarcinoma DOID:2526 risk OpenTargets:ENSG00000187741/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3743861 sequence variation in gene FANCA/NCBI:2175 202897 check_entity BB1380-1 presence of rs55664914 in SETD2 SETD2 dbSNP:rs55664914 gene cancer DOID:162 risk OpenTargets:ENSG00000181555/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55664914 sequence variation in gene SETD2/NCBI:29072 202898 check_entity BB1381-1 presence of rs42033 in CDK6 CDK6 dbSNP:rs42033 gene liposarcoma DOID:3382 risk OpenTargets:ENSG00000105810/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs42033 sequence variation in gene CDK6/NCBI:1021 202899 check_entity BB1382-1 presence of rs189087436 in AREG AREG dbSNP:rs189087436 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000109321/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs189087436 sequence variation in gene AREG/NCBI:374 202900 check_entity BB1383-1 presence of rs9568025 in RB1 RB1 dbSNP:rs9568025 gene retinoblastoma DOID:768 risk blood UBERON:0000178 21731-5 OpenTargets:ENSG00000139687/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9568025 sequence variation in gene RB1/NCBI:5925 202901 check_entity BB1308-4 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 202902 check_entity BB1270-2 presence of rs2184540 in SYK SYK dbSNP:rs2184540 gene mantle cell lymphoma DOID:0050746 risk OpenTargets:ENSG00000165025/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2184540 sequence variation in gene SYK/NCBI:6850 202903 check_entity BB1274-4 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene lymphoma DOID:0060058 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 202904 check_entity BB1384-1 presence of rs881844 in PIK3CA PIK3CA dbSNP:rs881844 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene PIK3CA/NCBI:5290 202905 check_entity BB1385-1 presence of rs182197129 in CCND1 CCND1 dbSNP:rs182197129 gene medulloblastoma DOID:0050902 risk blood UBERON:0000178 21744-8 OpenTargets:ENSG00000110092/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs182197129 sequence variation in gene CCND1/NCBI:595 202906 check_entity BB1314-3 presence of rs74911261 in ATM ATM dbSNP:rs74911261 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21624-2 OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene ATM/NCBI:472 202907 check_entity BB1276-2 presence of rs4456287 in MLL MLL dbSNP:rs4456287 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 35454-8 OpenTargets:ENSG00000118058/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4456287 sequence variation in gene MLL/NCBI: 202908 check_entity BB1386-1 presence of rs2299012 in RAD50 RAD50 dbSNP:rs2299012 gene cancer DOID:162 risk OpenTargets:ENSG00000113522/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2299012 sequence variation in gene RAD50/NCBI:10111 202909 check_entity BB1367-2 presence of rs73047773 in ERCC1 ERCC1 dbSNP:rs73047773 gene bladder carcinoma DOID:4007 risk tissue UBERON:0000479 69572-6 OpenTargets:ENSG00000012061/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73047773 sequence variation in gene ERCC1/NCBI:2067 202910 check_entity BB1387-1 presence of rs189211472 in RAD51C RAD51C dbSNP:rs189211472 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000108384/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs189211472 sequence variation in gene RAD51C/NCBI:5889 202911 check_entity BB1388-1 presence of rs1950526 in FOXA1 FOXA1 dbSNP:rs1950526 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000129514/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1950526 sequence variation in gene FOXA1/NCBI:3169 202912 check_entity BB1302-5 presence of rs218265 in KIT KIT dbSNP:rs218265 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 202913 check_entity BB1389-1 presence of rs11734754 in PDGFRA-FIP1L1 PDGFRA-FIP1L1 dbSNP:rs11734754 gene hypereosinophilic syndrome DOID:999 risk OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA-FIP1L1/NCBI: 202914 check_entity BB1266-11 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene bladder carcinoma DOID:4007 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 202915 check_entity BB1317-4 presence of rs74634457 in MAP2K1 MAP2K1 dbSNP:rs74634457 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 60495-9 OpenTargets:ENSG00000169032/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74634457 sequence variation in gene MAP2K1/NCBI:5604 202916 check_entity BB1323-9 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202917 check_entity BB1275-8 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene malignant astrocytoma DOID:3069 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202918 check_entity BB1323-10 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202919 check_entity BB1290-9 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202920 check_entity BB1338-4 presence of rs13277355 in MYC MYC dbSNP:rs13277355 gene multiple myeloma DOID:9538 risk blood UBERON:0000178 21750-5 OpenTargets:ENSG00000136997/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13277355 sequence variation in gene MYC/NCBI:4609 202921 check_entity BB1390-1 presence of rs1447597871 in CDH1 CDH1 dbSNP:rs1447597871 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 21652-3 OpenTargets:ENSG00000039068/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447597871 sequence variation in gene CDH1/NCBI:999 202922 check_entity BB1391-1 presence of rs61764367 in STK11 STK11 dbSNP:rs61764367 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 53795-1 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene STK11/NCBI:6794 202923 check_entity BB1278-3 presence of rs2306390 in CDK4 CDK4 dbSNP:rs2306390 gene cancer DOID:162 risk OpenTargets:ENSG00000135446/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2306390 sequence variation in gene CDK4/NCBI:1019 202924 check_entity BB1290-10 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202925 check_entity BB1350-4 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene thyroid cancer DOID:1781 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 202926 check_entity BB1290-11 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene biliary tract cancer DOID:4607 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202927 check_entity BB1392-1 presence of rs2295795 in CA9 CA9 dbSNP:rs2295795 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000107159/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2295795 sequence variation in gene CA9/NCBI:768 202928 check_entity BB1363-2 presence of rs3124592 in NOTCH1 NOTCH1 dbSNP:rs3124592 gene cancer DOID:162 risk blood UBERON:0000178 99126-5 OpenTargets:ENSG00000148400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3124592 sequence variation in gene NOTCH1/NCBI:4851 202929 check_entity BB1265-6 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene thyroid cancer DOID:1781 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202930 check_entity BB1275-9 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene lung non-small cell carcinoma DOID:3908 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202931 check_entity BB1331-6 presence of rs38859 in MET MET dbSNP:rs38859 gene cancer DOID:162 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202932 check_entity BB1315-8 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 202933 check_entity BB1312-2 presence of rs663474 in ROS1 ROS1 dbSNP:rs663474 gene lung non-small cell carcinoma DOID:3908 risk OpenTargets:ENSG00000047936/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs663474 sequence variation in gene ROS1/NCBI:6098 202934 check_entity BB1355-2 presence of rs2584124 in NTRK3 NTRK3 dbSNP:rs2584124 gene cancer DOID:162 risk OpenTargets:ENSG00000140538/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2584124 sequence variation in gene NTRK3/NCBI:4916 202935 check_entity BB1393-1 presence of rs2636668 in INPP4B INPP4B dbSNP:rs2636668 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000109452/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2636668 sequence variation in gene INPP4B/NCBI:8821 202936 check_entity BB1265-7 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene neurofibroma DOID:962 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202937 check_entity BB1383-2 presence of rs9568025 in RB1 RB1 dbSNP:rs9568025 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 21731-5 OpenTargets:ENSG00000139687/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9568025 sequence variation in gene RB1/NCBI:5925 202938 check_entity BB1323-11 presence of rs1234219 in PTEN PTEN dbSNP:rs1234219 gene pancreatic carcinoma DOID:4905 risk blood UBERON:0000178 47969-1 OpenTargets:ENSG00000171862/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1234219 sequence variation in gene PTEN/NCBI:5728 202939 check_entity BB1394-1 presence of rs2473181 in STAG2 STAG2 dbSNP:rs2473181 gene brain cancer DOID:1319 risk OpenTargets:ENSG00000101972/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2473181 sequence variation in gene STAG2/NCBI:10735 202940 check_entity BB1290-12 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene pancreatic carcinoma DOID:4905 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202941 check_entity BB1395-1 presence of rs9568025 in CDK4 CDK4 dbSNP:rs9568025 gene liposarcoma DOID:3382 risk OpenTargets:ENSG00000139687/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9568025 sequence variation in gene CDK4/NCBI:1019 202942 check_entity BB1396-1 presence of rs6026578 in GNAS GNAS dbSNP:rs6026578 gene cancer DOID:162 risk OpenTargets:ENSG00000087460/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6026578 sequence variation in gene GNAS/NCBI:2778 202943 check_entity BB1397-1 presence of rs73000929 in ZBTB16 ZBTB16 dbSNP:rs73000929 gene prostate adenocarcinoma DOID:2526 risk OpenTargets:ENSG00000109906/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73000929 sequence variation in gene ZBTB16/NCBI:7704 202944 check_entity BB1398-1 presence of rs3088050 in FGFR4 FGFR4 dbSNP:rs3088050 gene rhabdomyosarcoma DOID:3247 risk OpenTargets:ENSG00000160867/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3088050 sequence variation in gene FGFR4/NCBI:2264 202945 check_entity BB1399-1 presence of rs7853926 in TSC1 TSC1 dbSNP:rs7853926 gene sarcoma DOID:1115 risk blood UBERON:0000178 48979-9 OpenTargets:ENSG00000165699/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7853926 sequence variation in gene TSC1/NCBI:7248 202946 check_entity BB1400-1 presence of rs3829814 in MAP2K1 MAP2K1 dbSNP:rs3829814 gene skin melanoma DOID:8923 risk blood UBERON:0000178 60495-9 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene MAP2K1/NCBI:5604 202947 check_entity BB1401-1 presence of rs1736215 in FLCN FLCN dbSNP:rs1736215 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 57963-1 OpenTargets:ENSG00000154803/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1736215 sequence variation in gene FLCN/NCBI:201163 202948 check_entity BB1272-2 presence of rs76939542 in AURKA AURKA dbSNP:rs76939542 gene cancer DOID:162 risk OpenTargets:ENSG00000087586/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs76939542 sequence variation in gene AURKA/NCBI:6790 202949 check_entity BB1402-1 presence of rs493786 in FGF4 FGF4 dbSNP:rs493786 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000075388/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs493786 sequence variation in gene FGF4/NCBI:2249 202950 check_entity BB1403-1 presence of rs12096443 in CDKN2C CDKN2C dbSNP:rs12096443 gene cancer DOID:162 risk OpenTargets:ENSG00000123080/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12096443 sequence variation in gene CDKN2C/NCBI:1031 202951 check_entity BB1291-3 presence of rs13337626 in TSC2 TSC2 dbSNP:rs13337626 gene brain cancer DOID:1319 risk blood UBERON:0000178 48980-7 OpenTargets:ENSG00000103197/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13337626 sequence variation in gene TSC2/NCBI:7249 202952 check_entity BB1275-10 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene Langerhans-cell histiocytosis DOID:2571 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 202953 check_entity BB1399-2 presence of rs7853926 in TSC1 TSC1 dbSNP:rs7853926 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 48979-9 OpenTargets:ENSG00000165699/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7853926 sequence variation in gene TSC1/NCBI:7248 202954 check_entity BB1404-1 presence of rs16999497 in SMARCA1 SMARCA1 dbSNP:rs16999497 gene cancer DOID:162 risk OpenTargets:ENSG00000102038/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs16999497 sequence variation in gene SMARCA1/NCBI:6594 202955 check_entity BB1328-3 presence of rs1333037 in CDKN2A CDKN2A dbSNP:rs1333037 gene brain cancer DOID:1319 risk blood UBERON:0000178 21614-3 OpenTargets:ENSG00000147889/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1333037 sequence variation in gene CDKN2A/NCBI:1029 202956 check_entity BB1306-2 presence of rs9332739 in SLC44A4 SLC44A4 dbSNP:rs9332739 gene pancreatic adenocarcinoma DOID:4074 risk OpenTargets:ENSG00000204385/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9332739 sequence variation in gene SLC44A4/NCBI:80736 202957 check_entity BB1405-1 presence of rs7715167 in NPM1 NPM1 dbSNP:rs7715167 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 54448-6 OpenTargets:ENSG00000181163/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7715167 sequence variation in gene NPM1/NCBI:4869 202958 check_entity BB1279-3 presence of rs2494748 in AKT1 AKT1 dbSNP:rs2494748 gene head and neck squamous cell carcinoma DOID:5520 risk blood UBERON:0000178 42777-3 OpenTargets:ENSG00000142208/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2494748 sequence variation in gene AKT1/NCBI:207 202959 check_entity BB1325-2 presence of rs9825207 in ATR ATR dbSNP:rs9825207 gene cancer DOID:162 risk OpenTargets:ENSG00000175054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9825207 sequence variation in gene ATR/NCBI:545 202960 check_entity BB1316-6 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene biliary tract cancer DOID:4607 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202961 check_entity BB1406-1 presence of rs62348889 in FAT1 FAT1 dbSNP:rs62348889 gene head and neck squamous cell carcinoma DOID:5520 risk OpenTargets:ENSG00000083857/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62348889 sequence variation in gene FAT1/NCBI:2195 202962 check_entity BB1383-3 presence of rs9568025 in RB1 RB1 dbSNP:rs9568025 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 21731-5 OpenTargets:ENSG00000139687/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9568025 sequence variation in gene RB1/NCBI:5925 202963 check_entity BB1325-3 presence of rs9825207 in ATR ATR dbSNP:rs9825207 gene brain cancer DOID:1319 risk OpenTargets:ENSG00000175054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9825207 sequence variation in gene ATR/NCBI:545 202964 check_entity BB1278-4 presence of rs2306390 in CDK4 CDK4 dbSNP:rs2306390 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000135446/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2306390 sequence variation in gene CDK4/NCBI:1019 202965 check_entity BB1290-13 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene gastrointestinal stromal tumor DOID:9253 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202966 check_entity BB1407-1 presence of rs13232767 in EZH2 EZH2 dbSNP:rs13232767 gene lymphoma DOID:0060058 risk blood UBERON:0000178 96964-2 OpenTargets:ENSG00000106462/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13232767 sequence variation in gene EZH2/NCBI:2146 202967 check_entity BB1408-1 presence of rs35221880 in POLE POLE dbSNP:rs35221880 gene brain cancer DOID:1319 risk OpenTargets:ENSG00000177084/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs35221880 sequence variation in gene POLE/NCBI:5426 202968 check_entity BB1308-5 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene skin melanoma DOID:8923 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 202969 check_entity BB1316-7 presence of rs10749415 in FGFR2 FGFR2 dbSNP:rs10749415 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 21674-7 OpenTargets:ENSG00000066468/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10749415 sequence variation in gene FGFR2/NCBI:2263 202970 check_entity BB1409-1 presence of rs11602347 in IGF2 IGF2 dbSNP:rs11602347 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000167244/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11602347 sequence variation in gene IGF2/NCBI:3481 202971 check_entity BB1410-1 presence of rs1887428 in JAK2-BRAF JAK2-BRAF dbSNP:rs1887428 gene acute lymphoblastic leukemia DOID:9952 risk OpenTargets:ENSG00000096968/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1887428 sequence variation in gene JAK2-BRAF/NCBI: 202972 check_entity BB1326-2 presence of rs72922276 in JAK1 JAK1 dbSNP:rs72922276 gene acute lymphoblastic leukemia DOID:9952 risk OpenTargets:ENSG00000162434/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs72922276 sequence variation in gene JAK1/NCBI:3716 202973 check_entity BB1411-1 presence of rs3846706 in CSF1R CSF1R dbSNP:rs3846706 gene leukemia DOID:1240 risk OpenTargets:ENSG00000182578/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3846706 sequence variation in gene CSF1R/NCBI:1436 202974 check_entity BB1389-2 presence of rs11734754 in PDGFRA-FIP1L1 PDGFRA-FIP1L1 dbSNP:rs11734754 gene chronic eosinophilic leukemia DOID:0080367 risk OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA-FIP1L1/NCBI: 202975 check_entity BB1412-1 presence of rs1871859 in ESR1 ESR1 dbSNP:rs1871859 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000091831/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1871859 sequence variation in gene ESR1/NCBI:2099 202976 check_entity BB1413-1 presence of rs4976033 in PIK3R1 PIK3R1 dbSNP:rs4976033 gene endometrial carcinoma DOID:2871 risk OpenTargets:ENSG00000145675/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4976033 sequence variation in gene PIK3R1/NCBI:5295 202977 check_entity BB1414-1 presence of rs3829814 in RAC1 RAC1 dbSNP:rs3829814 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene RAC1/NCBI:5879 202978 check_entity BB1291-4 presence of rs13337626 in TSC2 TSC2 dbSNP:rs13337626 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 48980-7 OpenTargets:ENSG00000103197/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13337626 sequence variation in gene TSC2/NCBI:7249 202979 check_entity BB1314-4 presence of rs74911261 in ATM ATM dbSNP:rs74911261 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 21624-2 OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene ATM/NCBI:472 202980 check_entity BB1415-1 presence of rs3731246 in CDKN2B CDKN2B dbSNP:rs3731246 gene brain cancer DOID:1319 risk blood UBERON:0000178 21615-0 OpenTargets:ENSG00000147883/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3731246 sequence variation in gene CDKN2B/NCBI:1030 202981 check_entity BB1294-3 presence of rs200368423 in NOTCH2 NOTCH2 dbSNP:rs200368423 gene acute lymphoblastic leukemia DOID:9952 risk OpenTargets:ENSG00000134250/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs200368423 sequence variation in gene NOTCH2/NCBI:4853 202982 check_entity BB1416-1 presence of rs184227198 in ERCC2 ERCC2 dbSNP:rs184227198 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000104884/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs184227198 sequence variation in gene ERCC2/NCBI:2068 202983 check_entity BB1381-2 presence of rs42033 in CDK6 CDK6 dbSNP:rs42033 gene lymphoma DOID:0060058 risk OpenTargets:ENSG00000105810/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs42033 sequence variation in gene CDK6/NCBI:1021 202984 check_entity BB1290-14 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202985 check_entity BB1408-2 presence of rs35221880 in POLE POLE dbSNP:rs35221880 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000177084/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs35221880 sequence variation in gene POLE/NCBI:5426 202986 check_entity BB1417-1 presence of rs67009183 in CCND2 CCND2 dbSNP:rs67009183 gene cancer DOID:162 risk OpenTargets:ENSG00000118971/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs67009183 sequence variation in gene CCND2/NCBI:894 202987 check_entity BB1337-3 presence of rs2768762 in NTRK1 NTRK1 dbSNP:rs2768762 gene colorectal adenocarcinoma DOID:0050861 risk tissue UBERON:0000479 93813-4 OpenTargets:ENSG00000198400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2768762 sequence variation in gene NTRK1/NCBI:4914 202988 check_entity BB1331-7 presence of rs38859 in MET MET dbSNP:rs38859 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 202989 check_entity BB1418-1 presence of rs7709909 in MSH3 MSH3 dbSNP:rs7709909 gene cancer DOID:162 risk OpenTargets:ENSG00000113318/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7709909 sequence variation in gene MSH3/NCBI:4437 202990 check_entity BB1290-15 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene cancer DOID:162 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 202991 check_entity BB1419-1 presence of rs12448561 in PLCG2 PLCG2 dbSNP:rs12448561 gene chronic lymphocytic leukemia DOID:1040 risk blood UBERON:0000178 99128-1 OpenTargets:ENSG00000197943/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12448561 sequence variation in gene PLCG2/NCBI:5336 202992 check_entity BB1420-1 presence of rs4253230 in ERCC6 ERCC6 dbSNP:rs4253230 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000225830/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4253230 sequence variation in gene ERCC6/NCBI:2074 202993 check_entity BB1421-1 presence of rs187971642 in SERPINB3 SERPINB3 dbSNP:rs187971642 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000057149/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs187971642 sequence variation in gene SERPINB3/NCBI:6317 202994 check_entity BB1265-8 presence of rs73159014 in NF2 NF2 dbSNP:rs73159014 gene lung carcinoma DOID:3905 risk amniotic fluid UBERON:0000173 45332-4 OpenTargets:ENSG00000186575/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs73159014 sequence variation in gene NF2/NCBI:4771 202995 check_entity BB1422-1 presence of rs3829814 in NF1 NF1 dbSNP:rs3829814 gene skin melanoma DOID:8923 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene NF1/NCBI:4763 202996 check_entity BB1423-1 presence of rs7785013 in EGFR-RAD51 EGFR-RAD51 dbSNP:rs7785013 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR-RAD51/NCBI: 202997 check_entity BB1424-1 presence of rs881844 in HGF HGF dbSNP:rs881844 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene HGF/NCBI:3082 202998 check_entity BB1425-1 presence of rs8187929 in ARID1A ARID1A dbSNP:rs8187929 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000135046/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs8187929 sequence variation in gene ARID1A/NCBI:8289 202999 check_entity BB1426-1 presence of rs3829814 in RAF1 RAF1 dbSNP:rs3829814 gene skin melanoma DOID:8923 risk blood UBERON:0000178 82537-2 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene RAF1/NCBI:5894 203000 check_entity BB1315-9 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 203001 check_entity BB1282-3 presence of rs1799949 in BRCA1 BRCA1 dbSNP:rs1799949 gene pancreatic carcinoma DOID:4905 risk blood UBERON:0000178 21636-6 OpenTargets:ENSG00000012048/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1799949 sequence variation in gene BRCA1/NCBI:672 203002 check_entity BB1427-1 presence of rs6656611 in EPHA2 EPHA2 dbSNP:rs6656611 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000142627/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6656611 sequence variation in gene EPHA2/NCBI:1969 203003 check_entity BB1385-2 presence of rs182197129 in CCND1 CCND1 dbSNP:rs182197129 gene cancer DOID:162 risk blood UBERON:0000178 21744-8 OpenTargets:ENSG00000110092/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs182197129 sequence variation in gene CCND1/NCBI:595 203004 check_entity BB1275-11 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene Erdheim-Chester disease DOID:4329 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203005 check_entity BB1275-12 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene leukemia DOID:1240 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203006 check_entity BB1428-1 presence of rs4740360 in PRKCH PRKCH dbSNP:rs4740360 gene chronic myeloid leukemia DOID:8552 risk OpenTargets:ENSG00000097007/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4740360 sequence variation in gene PRKCH/NCBI:5583 203007 check_entity BB1350-5 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 203008 check_entity BB1302-6 presence of rs218265 in KIT KIT dbSNP:rs218265 gene chronic myeloid leukemia DOID:8552 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 203009 check_entity BB1375-3 presence of rs1887428 in JAK2 JAK2 dbSNP:rs1887428 gene myelofibrosis DOID:4971 risk blood UBERON:0000178 43399-5 OpenTargets:ENSG00000096968/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1887428 sequence variation in gene JAK2/NCBI:3717 203010 check_entity BB1429-1 presence of rs116434758 in GNAQ GNAQ dbSNP:rs116434758 gene skin melanoma DOID:8923 risk blood UBERON:0000178 100021-5 OpenTargets:ENSG00000156052/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs116434758 sequence variation in gene GNAQ/NCBI:2776 203011 check_entity BB1351-2 presence of rs56335522 in ERBB4 ERBB4 dbSNP:rs56335522 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000178568/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56335522 sequence variation in gene ERBB4/NCBI:2066 203012 check_entity BB1345-4 presence of rs6729895 in IDH1 IDH1 dbSNP:rs6729895 gene cancer DOID:162 risk blood UBERON:0000178 100022-3 OpenTargets:ENSG00000138413/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6729895 sequence variation in gene IDH1/NCBI:3417 203013 check_entity BB1430-1 presence of rs7201449 in ERCC4 ERCC4 dbSNP:rs7201449 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000175595/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7201449 sequence variation in gene ERCC4/NCBI:2072 203014 check_entity BB1351-3 presence of rs56335522 in ERBB4 ERBB4 dbSNP:rs56335522 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000178568/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56335522 sequence variation in gene ERBB4/NCBI:2066 203015 check_entity BB1431-1 presence of rs55799006 in DNMT3A DNMT3A dbSNP:rs55799006 gene acute myeloid leukemia DOID:9119 risk OpenTargets:ENSG00000119772/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55799006 sequence variation in gene DNMT3A/NCBI:1788 203016 check_entity BB1333-4 presence of rs193181528 in CD274 CD274 dbSNP:rs193181528 gene basal cell carcinoma DOID:2513 risk OpenTargets:ENSG00000120217/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs193181528 sequence variation in gene CD274/NCBI:29126 203017 check_entity BB1314-5 presence of rs74911261 in ATM ATM dbSNP:rs74911261 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 21624-2 OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene ATM/NCBI:472 203018 check_entity BB1432-1 presence of rs12167679 in SMARCB1 SMARCB1 dbSNP:rs12167679 gene rhabdoid cancer DOID:3672 risk OpenTargets:ENSG00000099956/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12167679 sequence variation in gene SMARCB1/NCBI:6598 203019 check_entity AN7929-3 presence of rs1799949 in BRCA1 BRCA1 dbSNP:rs1799949 gene cancer DOID:162 risk blood UBERON:0000178 21636-6 OpenTargets:ENSG00000012048/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1799949 sequence variation in gene BRCA1/NCBI:672 203020 check_entity BB1274-5 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene glioblastoma DOID:3068 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 203021 check_entity BB1277-3 presence of rs4402166 in ARID1A ARID1A dbSNP:rs4402166 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000117713/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4402166 sequence variation in gene ARID1A/NCBI:8289 203022 check_entity BB1371-3 presence of rs56337234 in FGFR3 FGFR3 dbSNP:rs56337234 gene brain cancer DOID:1319 risk blood UBERON:0000178 21676-2 OpenTargets:ENSG00000068078/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56337234 sequence variation in gene FGFR3/NCBI:2261 203023 check_entity BB1271-3 presence of rs4570704 in BRCA2 BRCA2 dbSNP:rs4570704 gene pancreatic carcinoma DOID:4905 risk blood UBERON:0000178 21640-8 OpenTargets:ENSG00000139618/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4570704 sequence variation in gene BRCA2/NCBI:675 203024 check_entity BB1423-2 presence of rs7785013 in EGFR-RAD51 EGFR-RAD51 dbSNP:rs7785013 gene lung non-small cell carcinoma DOID:3908 risk OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR-RAD51/NCBI: 203025 check_entity BB1427-2 presence of rs6656611 in EPHA2 EPHA2 dbSNP:rs6656611 gene cancer DOID:162 risk OpenTargets:ENSG00000142627/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6656611 sequence variation in gene EPHA2/NCBI:1969 203026 check_entity BB1308-6 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 203027 check_entity BB1433-1 presence of rs146566634 in EREG EREG dbSNP:rs146566634 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000124882/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs146566634 sequence variation in gene EREG/NCBI:2069 203028 check_entity BB1375-4 presence of rs1887428 in JAK2 JAK2 dbSNP:rs1887428 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 43399-5 OpenTargets:ENSG00000096968/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1887428 sequence variation in gene JAK2/NCBI:3717 203029 check_entity BB1282-5 presence of rs1799949 in BRCA1 BRCA1 dbSNP:rs1799949 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 21636-6 OpenTargets:ENSG00000012048/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1799949 sequence variation in gene BRCA1/NCBI:672 203030 check_entity BB1300-8 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene liver cancer DOID:3571 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 203031 check_entity BB1434-1 presence of rs55646508 in FGF3 FGF3 dbSNP:rs55646508 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000186895/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55646508 sequence variation in gene FGF3/NCBI:2248 203032 check_entity BB1264-8 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 203033 check_entity BB1381-3 presence of rs42033 in CDK6 CDK6 dbSNP:rs42033 gene cancer DOID:162 risk OpenTargets:ENSG00000105810/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs42033 sequence variation in gene CDK6/NCBI:1021 203034 check_entity BB1435-1 presence of rs3002416 in BCOR BCOR dbSNP:rs3002416 gene stomach carcinoma DOID:5517 risk OpenTargets:ENSG00000183337/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3002416 sequence variation in gene BCOR/NCBI:54880 203035 check_entity BB1436-1 presence of rs35589149 in RAC1 RAC1 dbSNP:rs35589149 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000136238/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs35589149 sequence variation in gene RAC1/NCBI:5879 203036 check_entity BB1333-5 presence of rs193181528 in CD274 CD274 dbSNP:rs193181528 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000120217/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs193181528 sequence variation in gene CD274/NCBI:29126 203037 check_entity BB1437-1 presence of rs1410492 in CCND3 CCND3 dbSNP:rs1410492 gene cancer DOID:162 risk OpenTargets:ENSG00000112576/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1410492 sequence variation in gene CCND3/NCBI:896 203038 check_entity BB1346-2 presence of rs265548 in JAK3 JAK3 dbSNP:rs265548 gene leukemia DOID:1240 risk blood UBERON:0000178 47963-4 OpenTargets:ENSG00000105639/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs265548 sequence variation in gene JAK3/NCBI:3718 203039 check_entity BB1314-6 presence of rs74911261 in ATM ATM dbSNP:rs74911261 gene brain cancer DOID:1319 risk blood UBERON:0000178 21624-2 OpenTargets:ENSG00000149311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs74911261 sequence variation in gene ATM/NCBI:472 203040 check_entity BB1332-2 presence of rs9873179 in PIK3CB PIK3CB dbSNP:rs9873179 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000051382/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9873179 sequence variation in gene PIK3CB/NCBI:5291 203041 check_entity BB1438-1 presence of rs34620233 in HIF1A HIF1A dbSNP:rs34620233 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000100644/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs34620233 sequence variation in gene HIF1A/NCBI:3091 203042 check_entity BB1331-8 presence of rs38859 in MET MET dbSNP:rs38859 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 203043 check_entity BB1439-1 presence of rs112672990 in PAK1 PAK1 dbSNP:rs112672990 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000149269/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs112672990 sequence variation in gene PAK1/NCBI:5058 203044 check_entity BB1318-5 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 203045 check_entity BB1329-3 presence of rs191425998 in FBXW7 FBXW7 dbSNP:rs191425998 gene cancer DOID:162 risk blood UBERON:0000178 100028-0 OpenTargets:ENSG00000109670/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs191425998 sequence variation in gene FBXW7/NCBI:55294 203046 check_entity BB1275-13 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene neuroendocrine tumor DOID:169 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203047 check_entity BB1385-3 presence of rs182197129 in CCND1 CCND1 dbSNP:rs182197129 gene lung carcinoma DOID:3905 risk blood UBERON:0000178 21744-8 OpenTargets:ENSG00000110092/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs182197129 sequence variation in gene CCND1/NCBI:595 203048 check_entity BB1369-2 presence of rs12714871 in RAF1 RAF1 dbSNP:rs12714871 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 82537-2 OpenTargets:ENSG00000132155/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12714871 sequence variation in gene RAF1/NCBI:5894 203049 check_entity BB1415-2 presence of rs3731246 in CDKN2B CDKN2B dbSNP:rs3731246 gene cancer DOID:162 risk blood UBERON:0000178 21615-0 OpenTargets:ENSG00000147883/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3731246 sequence variation in gene CDKN2B/NCBI:1030 203050 check_entity BB1440-1 presence of rs6541725 in GLI2 GLI2 dbSNP:rs6541725 gene medulloblastoma DOID:0050902 risk OpenTargets:ENSG00000074047/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6541725 sequence variation in gene GLI2/NCBI:2736 203051 check_entity BB1302-7 presence of rs218265 in KIT KIT dbSNP:rs218265 gene cancer DOID:162 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 203052 check_entity BB1362-2 presence of rs71487219 in HRAS HRAS dbSNP:rs71487219 gene cancer DOID:162 risk blood UBERON:0000178 21698-6 OpenTargets:ENSG00000174775/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs71487219 sequence variation in gene HRAS/NCBI:3265 203053 check_entity BB1399-3 presence of rs7853926 in TSC1 TSC1 dbSNP:rs7853926 gene renal carcinoma DOID:4451 risk blood UBERON:0000178 48979-9 OpenTargets:ENSG00000165699/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7853926 sequence variation in gene TSC1/NCBI:7248 203054 check_entity BB1275-14 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene multiple myeloma DOID:9538 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203055 check_entity BB1275-15 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene biliary tract cancer DOID:4607 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203056 check_entity BB1441-1 presence of rs12104396 in PIK3R2 PIK3R2 dbSNP:rs12104396 gene endometrial carcinoma DOID:2871 risk OpenTargets:ENSG00000105647/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12104396 sequence variation in gene PIK3R2/NCBI:5296 203057 check_entity BB1315-10 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene head and neck cancer DOID:11934 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 203058 check_entity BB1319-2 presence of rs705702 in ERBB3 ERBB3 dbSNP:rs705702 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000065361/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs705702 sequence variation in gene ERBB3/NCBI:2065 203059 check_entity BB1315-11 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene stomach carcinoma DOID:5517 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 203060 check_entity BB1363-3 presence of rs3124592 in NOTCH1 NOTCH1 dbSNP:rs3124592 gene mantle cell lymphoma DOID:0050746 risk blood UBERON:0000178 99126-5 OpenTargets:ENSG00000148400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3124592 sequence variation in gene NOTCH1/NCBI:4851 203061 check_entity BB1442-1 presence of rs1319859 in IGF1R IGF1R dbSNP:rs1319859 gene lung adenocarcinoma DOID:3910 risk OpenTargets:ENSG00000140443/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1319859 sequence variation in gene IGF1R/NCBI:3480 203062 check_entity BB1280-6 presence of rs11734754 in PDGFRA PDGFRA dbSNP:rs11734754 gene hypereosinophilic syndrome DOID:999 risk blood UBERON:0000178 55092-1 OpenTargets:ENSG00000134853/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs11734754 sequence variation in gene PDGFRA/NCBI:5156 203063 check_entity BB1336-2 presence of rs744617 in PML-RARA PML-RARA dbSNP:rs744617 gene acute promyelocytic leukemia DOID:0060318 risk OpenTargets:ENSG00000140464/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs744617 sequence variation in gene PML-RARA/NCBI: 203064 check_entity BB1443-1 presence of rs1871859 in ESR1-YAP1 ESR1-YAP1 dbSNP:rs1871859 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000091831/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1871859 sequence variation in gene ESR1-YAP1/NCBI: 203065 check_entity BB1302-8 presence of rs218265 in KIT KIT dbSNP:rs218265 gene leukemia DOID:1240 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 203066 check_entity BB1319-3 presence of rs705702 in ERBB3 ERBB3 dbSNP:rs705702 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000065361/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs705702 sequence variation in gene ERBB3/NCBI:2065 203067 check_entity BB1274-6 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 203068 check_entity BB1444-1 presence of rs1805007 in TUBB3 TUBB3 dbSNP:rs1805007 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000258947/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1805007 sequence variation in gene TUBB3/NCBI:10381 203069 check_entity BB1313-3 presence of rs62505473 in FGFR1 FGFR1 dbSNP:rs62505473 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 42785-6 OpenTargets:ENSG00000077782/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62505473 sequence variation in gene FGFR1/NCBI:2260 203070 check_entity BB1445-1 presence of rs6665912 in MCL1 MCL1 dbSNP:rs6665912 gene cancer DOID:162 risk OpenTargets:ENSG00000143384/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6665912 sequence variation in gene MCL1/NCBI:4170 203071 check_entity BB1308-7 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 203072 check_entity BB1318-6 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene leukemia DOID:1240 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 203073 check_entity BB1321-3 presence of rs6784615 in BAP1 BAP1 dbSNP:rs6784615 gene skin melanoma DOID:8923 risk OpenTargets:ENSG00000163930/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6784615 sequence variation in gene BAP1/NCBI:8314 203074 check_entity BB1399-4 presence of rs7853926 in TSC1 TSC1 dbSNP:rs7853926 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 48979-9 OpenTargets:ENSG00000165699/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7853926 sequence variation in gene TSC1/NCBI:7248 203075 check_entity BB1446-1 presence of rs13062221 in EPHA3 EPHA3 dbSNP:rs13062221 gene cancer DOID:162 risk OpenTargets:ENSG00000044524/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13062221 sequence variation in gene EPHA3/NCBI:2042 203076 check_entity BB1447-1 presence of rs68189791 in NRG1 NRG1 dbSNP:rs68189791 gene lung adenocarcinoma DOID:3910 risk OpenTargets:ENSG00000157168/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs68189791 sequence variation in gene NRG1/NCBI:3084 203077 check_entity BB1291-5 presence of rs13337626 in TSC2 TSC2 dbSNP:rs13337626 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 48980-7 OpenTargets:ENSG00000103197/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13337626 sequence variation in gene TSC2/NCBI:7249 203078 check_entity BB1448-1 presence of rs2646421 in GATA3 GATA3 dbSNP:rs2646421 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000107485/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2646421 sequence variation in gene GATA3/NCBI:2625 203079 check_entity BB1279-4 presence of rs2494748 in AKT1 AKT1 dbSNP:rs2494748 gene fibrous histiocytoma DOID:4415 risk blood UBERON:0000178 42777-3 OpenTargets:ENSG00000142208/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2494748 sequence variation in gene AKT1/NCBI:207 203080 check_entity BB1276-3 presence of rs4456287 in MLL MLL dbSNP:rs4456287 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 35454-8 OpenTargets:ENSG00000118058/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4456287 sequence variation in gene MLL/NCBI: 203081 check_entity BB1313-4 presence of rs62505473 in FGFR1 FGFR1 dbSNP:rs62505473 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 42785-6 OpenTargets:ENSG00000077782/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs62505473 sequence variation in gene FGFR1/NCBI:2260 203082 check_entity BB1275-16 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene brain cancer DOID:1319 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203083 check_entity BB1318-7 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene head and neck cancer DOID:11934 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 203084 check_entity BB1369-3 presence of rs12714871 in RAF1 RAF1 dbSNP:rs12714871 gene skin melanoma DOID:8923 risk blood UBERON:0000178 82537-2 OpenTargets:ENSG00000132155/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12714871 sequence variation in gene RAF1/NCBI:5894 203085 check_entity BB1362-3 presence of rs71487219 in HRAS HRAS dbSNP:rs71487219 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 21698-6 OpenTargets:ENSG00000174775/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs71487219 sequence variation in gene HRAS/NCBI:3265 203086 check_entity BB1413-2 presence of rs4976033 in PIK3R1 PIK3R1 dbSNP:rs4976033 gene brain cancer DOID:1319 risk OpenTargets:ENSG00000145675/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4976033 sequence variation in gene PIK3R1/NCBI:5295 203087 check_entity BB1449-1 presence of rs140353819 in ZNRF3 ZNRF3 dbSNP:rs140353819 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000183579/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs140353819 sequence variation in gene ZNRF3/NCBI:84133 203088 check_entity BB1271-4 presence of rs4570704 in BRCA2 BRCA2 dbSNP:rs4570704 gene prostate adenocarcinoma DOID:2526 risk blood UBERON:0000178 21640-8 OpenTargets:ENSG00000139618/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4570704 sequence variation in gene BRCA2/NCBI:675 203089 check_entity BB1321-4 presence of rs6784615 in BAP1 BAP1 dbSNP:rs6784615 gene cancer DOID:162 risk OpenTargets:ENSG00000163930/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6784615 sequence variation in gene BAP1/NCBI:8314 203090 check_entity BB1450-1 presence of rs460976 in TMPRSS2 TMPRSS2 dbSNP:rs460976 gene prostate adenocarcinoma DOID:2526 risk OpenTargets:ENSG00000184012/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs460976 sequence variation in gene TMPRSS2/NCBI:7113 203091 check_entity BB1331-9 presence of rs38859 in MET MET dbSNP:rs38859 gene brain cancer DOID:1319 risk blood UBERON:0000178 100026-4 OpenTargets:ENSG00000105976/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs38859 sequence variation in gene MET/NCBI:4233 203092 check_entity BB1275-17 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene ovarian carcinoma DOID:4001 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203093 check_entity BB1451-1 presence of rs78110118 in MDM4 MDM4 dbSNP:rs78110118 gene sarcoma DOID:1115 risk OpenTargets:ENSG00000198625/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs78110118 sequence variation in gene MDM4/NCBI:4194 203094 check_entity BB1318-8 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene testicular cancer DOID:2998 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 203095 check_entity BB1452-1 presence of rs145922731 in FANCC FANCC dbSNP:rs145922731 gene bladder carcinoma DOID:4007 risk blood UBERON:0000178 32639-7 OpenTargets:ENSG00000158169/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs145922731 sequence variation in gene FANCC/NCBI:2176 203096 check_entity BB1264-9 presence of rs7785013 in EGFR EGFR dbSNP:rs7785013 gene glioblastoma DOID:3068 risk blood UBERON:0000178 21665-5 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene EGFR/NCBI:1956 203097 check_entity BB1453-1 presence of rs36115365 in TERT TERT dbSNP:rs36115365 gene glioblastoma DOID:3068 risk tissue UBERON:0000479 95778-7 OpenTargets:ENSG00000164362/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs36115365 sequence variation in gene TERT/NCBI:7015 203098 check_entity BB1403-2 presence of rs12096443 in CDKN2C CDKN2C dbSNP:rs12096443 gene brain cancer DOID:1319 risk OpenTargets:ENSG00000123080/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12096443 sequence variation in gene CDKN2C/NCBI:1031 203099 check_entity BB1292-2 presence of rs3879293 in MDM2 MDM2 dbSNP:rs3879293 gene liposarcoma DOID:3382 risk tissue UBERON:0000479 93805-0 OpenTargets:ENSG00000135679/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3879293 sequence variation in gene MDM2/NCBI:4193 203100 check_entity BB1318-9 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene thymic carcinoma DOID:3284 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 203101 check_entity BB1385-4 presence of rs182197129 in CCND1 CCND1 dbSNP:rs182197129 gene skin melanoma DOID:8923 risk blood UBERON:0000178 21744-8 OpenTargets:ENSG00000110092/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs182197129 sequence variation in gene CCND1/NCBI:595 203102 check_entity BB1300-9 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene head and neck cancer DOID:11934 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 203103 check_entity BB1401-2 presence of rs1736215 in FLCN FLCN dbSNP:rs1736215 gene renal carcinoma DOID:4451 risk blood UBERON:0000178 57963-1 OpenTargets:ENSG00000154803/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1736215 sequence variation in gene FLCN/NCBI:201163 203104 check_entity BB1454-1 presence of rs10878984 in FRS2 FRS2 dbSNP:rs10878984 gene liposarcoma DOID:3382 risk OpenTargets:ENSG00000166225/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10878984 sequence variation in gene FRS2/NCBI:10818 203105 check_entity BB1274-7 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 203106 check_entity BB1290-16 presence of rs61764367 in KRAS KRAS dbSNP:rs61764367 gene cervix carcinoma DOID:2893 risk blood UBERON:0000178 21702-6 OpenTargets:ENSG00000133703/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs61764367 sequence variation in gene KRAS/NCBI:3845 203107 check_entity BB1455-1 presence of rs340797 in MYCN MYCN dbSNP:rs340797 gene medulloblastoma DOID:0050902 risk blood UBERON:0000178 93796-1 OpenTargets:ENSG00000134323/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs340797 sequence variation in gene MYCN/NCBI:4613 203108 check_entity BB1417-2 presence of rs67009183 in CCND2 CCND2 dbSNP:rs67009183 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000118971/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs67009183 sequence variation in gene CCND2/NCBI:894 203109 check_entity BB1356-2 presence of rs9813107 in CTNNB1 CTNNB1 dbSNP:rs9813107 gene colorectal adenocarcinoma DOID:0050861 risk blood UBERON:0000178 21659-8 OpenTargets:ENSG00000168036/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs9813107 sequence variation in gene CTNNB1/NCBI:1499 203110 check_entity BB1456-1 presence of rs34231037 in KDR KDR dbSNP:rs34231037 gene cancer DOID:162 risk OpenTargets:ENSG00000128052/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs34231037 sequence variation in gene KDR/NCBI:3791 203111 check_entity BB1302-9 presence of rs218265 in KIT KIT dbSNP:rs218265 gene hypereosinophilic syndrome DOID:999 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 203112 check_entity BB1363-4 presence of rs3124592 in NOTCH1 NOTCH1 dbSNP:rs3124592 gene adenoid cystic carcinoma DOID:0080202 risk blood UBERON:0000178 99126-5 OpenTargets:ENSG00000148400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3124592 sequence variation in gene NOTCH1/NCBI:4851 203113 check_entity BB1300-10 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene osteosarcoma DOID:3347 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 203114 check_entity BB1315-12 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene cervical squamous cell carcinoma DOID:3744 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 203115 check_entity BB1350-6 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene angiosarcoma DOID:0001816 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 203116 check_entity BB1457-1 presence of rs5757592 in PDGFB-COL1A1 PDGFB-COL1A1 dbSNP:rs5757592 gene fibrosarcoma DOID:3355 risk OpenTargets:ENSG00000100311/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs5757592 sequence variation in gene PDGFB-COL1A1/NCBI: 203117 check_entity BB1274-8 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene thyroid cancer DOID:1781 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 203118 check_entity BB1315-13 presence of rs553084547 in PIK3CA PIK3CA dbSNP:rs553084547 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 60033-8 OpenTargets:ENSG00000121879/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs553084547 sequence variation in gene PIK3CA/NCBI:5290 203119 check_entity BB1358-2 presence of rs17758695 in BCL2 BCL2 dbSNP:rs17758695 gene lymphoma DOID:0060058 risk blood UBERON:0000178 21095-5 OpenTargets:ENSG00000171791/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs17758695 sequence variation in gene BCL2/NCBI:596 203120 check_entity BB1458-1 presence of rs76806311 in FLT1 FLT1 dbSNP:rs76806311 gene renal carcinoma DOID:4451 risk OpenTargets:ENSG00000102755/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs76806311 sequence variation in gene FLT1/NCBI:2321 203121 check_entity BB1459-1 presence of rs200672841 in U2AF1 U2AF1 dbSNP:rs200672841 gene cancer DOID:162 risk OpenTargets:ENSG00000160201/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs200672841 sequence variation in gene U2AF1/NCBI:7307 203122 check_entity BB1288-4 presence of rs28841391 in STK11 STK11 dbSNP:rs28841391 gene pancreatic carcinoma DOID:4905 risk blood UBERON:0000178 53795-1 OpenTargets:ENSG00000118046/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs28841391 sequence variation in gene STK11/NCBI:6794 203123 check_entity BB1460-1 presence of rs2240775 in SRSF2 SRSF2 dbSNP:rs2240775 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 100025-6 OpenTargets:ENSG00000161547/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2240775 sequence variation in gene SRSF2/NCBI:6427 203124 check_entity BB1279-5 presence of rs2494748 in AKT1 AKT1 dbSNP:rs2494748 gene endometrial carcinoma DOID:2871 risk blood UBERON:0000178 42777-3 OpenTargets:ENSG00000142208/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs2494748 sequence variation in gene AKT1/NCBI:207 203125 check_entity BB1399-5 presence of rs7853926 in TSC1 TSC1 dbSNP:rs7853926 gene brain cancer DOID:1319 risk blood UBERON:0000178 48979-9 OpenTargets:ENSG00000165699/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7853926 sequence variation in gene TSC1/NCBI:7248 203126 check_entity BB1318-10 presence of rs55831773 in TP53 TP53 dbSNP:rs55831773 gene cancer DOID:162 risk blood UBERON:0000178 21739-8 OpenTargets:ENSG00000141510/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs55831773 sequence variation in gene TP53/NCBI:7157 203127 check_entity BB1308-8 presence of rs6671984 in NRAS NRAS dbSNP:rs6671984 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 21719-0 OpenTargets:ENSG00000213281/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6671984 sequence variation in gene NRAS/NCBI:4893 203128 check_entity BB1275-18 presence of rs3829814 in BRAF BRAF dbSNP:rs3829814 gene gastrointestinal stromal tumor DOID:9253 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000157764/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3829814 sequence variation in gene BRAF/NCBI:673 203129 check_entity BB1461-1 presence of rs117916865 in MLL2 MLL2 dbSNP:rs117916865 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000167548/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs117916865 sequence variation in gene MLL2/NCBI:8085 203130 check_entity BB1362-4 presence of rs71487219 in HRAS HRAS dbSNP:rs71487219 gene cervical squamous cell carcinoma DOID:3744 risk blood UBERON:0000178 21698-6 OpenTargets:ENSG00000174775/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs71487219 sequence variation in gene HRAS/NCBI:3265 203131 check_entity BB1462-1 presence of rs144941122 in PDPK1 PDPK1 dbSNP:rs144941122 gene breast adenocarcinoma DOID:3458 risk OpenTargets:ENSG00000140992/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs144941122 sequence variation in gene PDPK1/NCBI:5170 203132 check_entity BB1363-5 presence of rs3124592 in NOTCH1 NOTCH1 dbSNP:rs3124592 gene breast adenocarcinoma DOID:3458 risk blood UBERON:0000178 99126-5 OpenTargets:ENSG00000148400/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3124592 sequence variation in gene NOTCH1/NCBI:4851 203133 check_entity BB1345-5 presence of rs6729895 in IDH1 IDH1 dbSNP:rs6729895 gene cholangiocarcinoma DOID:4947 risk blood UBERON:0000178 100022-3 OpenTargets:ENSG00000138413/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs6729895 sequence variation in gene IDH1/NCBI:3417 203134 check_entity BB1349-4 presence of rs7163762 in IDH2 IDH2 dbSNP:rs7163762 gene acute myeloid leukemia DOID:9119 risk blood UBERON:0000178 100023-1 OpenTargets:ENSG00000182054/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7163762 sequence variation in gene IDH2/NCBI:3418 203135 check_entity BB1326-3 presence of rs72922276 in JAK1 JAK1 dbSNP:rs72922276 gene colorectal adenocarcinoma DOID:0050861 risk OpenTargets:ENSG00000162434/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs72922276 sequence variation in gene JAK1/NCBI:3716 203136 check_entity BB1463-1 presence of rs1495099 in CDK12 CDK12 dbSNP:rs1495099 gene ovarian carcinoma DOID:4001 risk OpenTargets:ENSG00000167258/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1495099 sequence variation in gene CDK12/NCBI:51755 203137 check_entity BB1271-5 presence of rs4570704 in BRCA2 BRCA2 dbSNP:rs4570704 gene skin melanoma DOID:8923 risk blood UBERON:0000178 21640-8 OpenTargets:ENSG00000139618/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs4570704 sequence variation in gene BRCA2/NCBI:675 203138 check_entity BB1464-1 presence of rs10844639 in CD69 CD69 dbSNP:rs10844639 gene chronic lymphocytic leukemia DOID:1040 risk blood UBERON:0000178 5522-8 OpenTargets:ENSG00000110848/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs10844639 sequence variation in gene CD69/NCBI:969 203139 check_entity BB1465-1 presence of rs72692916 in PTPRD PTPRD dbSNP:rs72692916 gene sarcoma DOID:1115 risk OpenTargets:ENSG00000153707/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs72692916 sequence variation in gene PTPRD/NCBI:5789 203140 check_entity BB1408-3 presence of rs35221880 in POLE POLE dbSNP:rs35221880 gene endometrial carcinoma DOID:2871 risk OpenTargets:ENSG00000177084/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs35221880 sequence variation in gene POLE/NCBI:5426 203141 check_entity BB1466-1 presence of rs13166875 in RICTOR RICTOR dbSNP:rs13166875 gene lung carcinoma DOID:3905 risk OpenTargets:ENSG00000164327/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs13166875 sequence variation in gene RICTOR/NCBI:253260 203142 check_entity BB1274-9 presence of rs1447523 in ALK ALK dbSNP:rs1447523 gene leukemia DOID:1240 risk blood UBERON:0000178 100019-9 OpenTargets:ENSG00000171094/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs1447523 sequence variation in gene ALK/NCBI:238 203143 check_entity BB1467-1 presence of rs7785013 in BRAF BRAF dbSNP:rs7785013 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 53844-7 OpenTargets:ENSG00000146648/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs7785013 sequence variation in gene BRAF/NCBI:673 203144 check_entity BB1300-11 presence of rs3837848 in NF1 NF1 dbSNP:rs3837848 gene neurofibroma DOID:962 risk blood UBERON:0000178 21717-4 OpenTargets:ENSG00000196712/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs3837848 sequence variation in gene NF1/NCBI:4763 203145 check_entity BB1302-10 presence of rs218265 in KIT KIT dbSNP:rs218265 gene acute lymphoblastic leukemia DOID:9952 risk blood UBERON:0000178 55201-8 OpenTargets:ENSG00000157404/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs218265 sequence variation in gene KIT/NCBI:3815 203146 check_entity BB1350-7 presence of rs12144048 in MTOR MTOR dbSNP:rs12144048 gene bladder carcinoma DOID:4007 risk OpenTargets:ENSG00000198793/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs12144048 sequence variation in gene MTOR/NCBI:2475 203147 check_entity BB1371-4 presence of rs56337234 in FGFR3 FGFR3 dbSNP:rs56337234 gene lung adenocarcinoma DOID:3910 risk blood UBERON:0000178 21676-2 OpenTargets:ENSG00000068078/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs56337234 sequence variation in gene FGFR3/NCBI:2261 203148 check_entity BB1266-12 presence of rs881844 in ERBB2 ERBB2 dbSNP:rs881844 gene head and neck cancer DOID:11934 risk tissue UBERON:0000479 31150-6 OpenTargets:ENSG00000141736/HP_0001787 assessed_biomarker_entity;assessed_biomarker_entity_id;biomarker;condition;specimen change_type:presence of;mod_type:sequence variation Presence of dbSNP:rs881844 sequence variation in gene ERBB2/NCBI:2064 203149 check_entity