{ "uniprot_canonical_ac": "A2RRP1-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" }, "uniprot_id": "C9JCM7_HUMAN", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10882752", "type": "PubMed", "id": "10882752" } ], "title": "Gene amplification in PNETs/medulloblastomas: mapping of a novel amplified gene within the MYCN amplicon.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "White P.S., Brodeur G.M., Krahe R., Plass C., Rush L.J., Costello J.F., Reiter J.L., Fruehwald M.C., O'Dorisio M.S., Smiraglia D.J., Wenger G.", "date": "2000" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11954550", "type": "PubMed", "id": "11954550" } ], "title": "A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12706883", "type": "PubMed", "id": "12706883" } ], "title": "The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3 kb transcript predominantly expressed in neuroblastoma.", "journal": "Gene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Lu X., Scott D.K., Lunec J., Board J.R., Kenyon R.M., Pearson A.D.J.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17028906", "type": "PubMed", "id": "17028906" } ], "title": "Relationship of DDX1 and NAG gene amplification/overexpression to the prognosis of patients with MYCN-amplified neuroblastoma.", "journal": "Journal of cancer research and clinical oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Kaneko S, Ohira M, Nakamura Y, Isogai E, Nakagawara A, Kaneko M", "date": "2007" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18318008", "type": "PubMed", "id": "18318008" } ], "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Gu J., Han G., Jiang X., Wan D., Ye M., Zhou H., Zou H., Feng S., Jiang X.', Tian R.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18452278", "type": "PubMed", "id": "18452278" } ], "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" } ], "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18491316", "type": "PubMed", "id": "18491316" } ], "title": "Phosphoproteome analysis of the human Chang liver cells using SCX and a complementary mass spectrometric strategy.", "journal": "Proteomics", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" } ], "authors": "Sui S, Wang J, Yang B, Song L, Zhang J, Chen M, Liu J, Lu Z, Cai Y, Chen S, Bi W, Zhu Y, He F, Qian X", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "type": "PubMed", "id": "18669648" } ], "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" } ], "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19369418", "type": "PubMed", "id": "19369418" } ], "title": "Identification of the neuroblastoma-amplified gene product as a component of the syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport.", "journal": "Mol. Biol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Isobe T., Aoki T., Tagaya M., Itoh A., Shinkawa T., Ichimura S., Kuramoto M.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19608861", "type": "PubMed", "id": "19608861" } ], "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/H0Y5G7", "id": "H0Y5G7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7BZU5", "id": "H7BZU5", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/C9JCM7", "id": "C9JCM7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Choudhary C., Gnad F., Kumar C., Mann M., Nielsen M.L., Olsen J.V., Rehman M., Walther T.C.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19651622", "type": "PubMed", "id": "19651622" } ], "title": "Global effects of kinase inhibitors on signaling networks revealed by quantitative phosphoproteomics.", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" } ], "authors": "Pan C, Olsen JV, Daub H, Mann M", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "type": "PubMed", "id": "19690332" } ], "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" } ], "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "type": "PubMed", "id": "20068231" } ], "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" } ], "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20166139", "type": "PubMed", "id": "20166139" } ], "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" } ], "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20462495", "type": "PubMed", "id": "20462495" } ], "title": "Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery.", "journal": "Structure", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Ciccarelli F.D., Di Fonzo A., Musacchio A., Santaguida S., Civril F., Giorgi F.M., Grigorean G., Wehenkel A.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20577004", "type": "PubMed", "id": "20577004" } ], "title": "Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Takahashi H., Kuwano R., Hara K., Takagi M., Nishizawa M., Onodera O., Fujiwara H., Oyama T., Usui T., Maksimova N., Nikolaeva I., Nogovicina A., Sukhomyasova A., Miyashita A., Chun-Feng T., Nishihira Y., Potapova S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "type": "PubMed", "id": "21406692" } ], "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" } ], "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "type": "PubMed", "id": "23186163" } ], "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" } ], "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "date": "2013" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "type": "PubMed", "id": "24275569" } ], "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" } ], "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26073778", "type": "PubMed", "id": "26073778" } ], "title": "Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Baric I., Graf E., Haack T.B., Meitinger T., Prokisch H., Strom T.M., Taylor R.W., Vockley J., Wieland T., Freisinger P., Hoffmann G.F., Zschocke J., Thiel C., Kremer L.S., Bader D.M., Distelmaier F., Gagneur J., Schwarzmayr T., Koelker S., Staufner C., Kotzaeridou U., Kuehr J., Terrile C., Straub B.K., Beisse F., Burgard P., Dikow N., Ghaloul-Gonzalez L., Harting I., Himbert U., Koepke M.G., McKiernan P.J.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26286438", "type": "PubMed", "id": "26286438" } ], "title": "NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.", "journal": "Am. J. Med. Genet. A", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Superti-Furga A., Munier F.L., Ballhausen D., Candotti F., Bonafe L., Unger S., Rivolta C., Royer-Bertrand B., Garcia Segarra N., Campos-Xavier B., Stevenson B., Crawford H., Perreau M., Russo M., Vermeer C., Zambelli P.Y., van Spaendonck-Zwarts K.", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26592762", "type": "PubMed", "id": "26592762" } ], "title": "Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis.", "journal": "Scientific reports", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" } ], "authors": "de Cima S, Polo LM, Diez-Fernandez C, Martinez AI, Cervera J, Fita I, Rubio V", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28576691", "type": "PubMed", "id": "28576691" } ], "title": "Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.", "journal": "European journal of medical genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venancio M, Casanova JL, Goncalves I, Jouanguy E, Diogo L", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28629372", "type": "PubMed", "id": "28629372" } ], "title": "Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study.", "journal": "BMC gastroenterology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Li JQ, Qiu YL, Gong JY, Dou LM, Lu Y, Knisely AS, Zhang MH, Luan WS, Wang JS", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29369590", "type": "PubMed", "id": "29369590" } ], "title": "[Population frequency and age of mutation G5741-->A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic].", "journal": "Genetika", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Maksimova NR, Nogovicina AN, Kurtanov KA, Alekseeva EI", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29929043", "type": "PubMed", "id": "29929043" } ], "title": "Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.", "journal": "Bone", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Palagano E, Zuccarini G, Prontera P, Borgatti R, Stangoni G, Elisei S, Mantero S, Menale C, Forlino A, Uva P, Oppo M, Vezzoni P, Villa A, Merlo GR, Sobacchi C", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30825388", "type": "PubMed", "id": "30825388" } ], "title": "NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations.", "journal": "Human mutation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ], "authors": "Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/9926938", "type": "PubMed", "id": "9926938" } ], "title": "Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma.", "journal": "Oncogene", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "authors": "Ambros P.F., Hanash S.M., Kuick R., Lamb B.J., Wimmer K., Kovar H., Zhu X.X., Alberts J.R., Motyka S., Thoraval D.", "date": "1999" } ], "uniprot_ac": "A2RRP1", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRP1", "type": "synonym", "resource": "RefSeq", "name": "ILFS2; NAG; SOPH" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "type": "synonym", "resource": "UniProtKB", "name": "NAG" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRP1", "type": "synonym", "resource": "RefSeq", "name": "NBAS" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "type": "recommended", "resource": "UniProtKB", "name": "NBAS" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-1", "isoform_ac": "A2RRP1-1", "locus": { "end_pos": 15167051, "strand": "+", "start_pos": 15561304, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000281513", "id": "ENST00000281513", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000281513", "id": "ENSP00000281513", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RRP1-1|NBAS_HUMAN Isoform 1 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2371, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQVDCALSLIRLGMERNIPGLLVLCDNLVTLETLVYEARCDVTLTLKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#A2RRP1-2", "isoform_ac": "A2RRP1-2", "locus": {}, "sequence": { "header": "sp|A2RRP1-2|NBAS_HUMAN Isoform 2 of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=2 CANONICAL=A2RRP1-1", "length": 2251, "sequence": "MAAPESGPALSPGTAEGEEETILYDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLASNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVISPASSFIGDLSYAIAGLIFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHCFSFSSHYPHGINTAIYHPGHRLLLVGGCETAEVGMSKASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQPGYDDLNPDWRLSTEKRKKIKDKESFYPLIDVNWWADSAVTLARCSGALTVSSVKTLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRLETRAGEEDEGEEDSDSDYEISAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNVASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALLAIGKGADDGRFTLPGEIDIDSISYEELSPPDEEPAKNKKEKELKKRQELLKLVNFSKLTLEQKELCRCRRKLLTYLDRLATYEEILGVPHASEQRYDAEFFKKFRNQNIVLSARTYAQESNVQALEILFTYHGSDLLPHRLAILSNFPETTSPHEYSVLLPEACFNGDSLMIIPWHEHKHRAKDWCEELACRMVVEPNLQDESEFLYAAQPELLRFRMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#C9JCM7-1", "isoform_ac": "C9JCM7-1", "locus": { "end_pos": 15374609, "strand": "+", "start_pos": 15424392, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000441755", "id": "ENST00000441755", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000396501", "id": "ENSP00000396501", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JCM7-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 281, "sequence": "MTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQ" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H0Y5G7-1", "isoform_ac": "H0Y5G7-1", "locus": { "end_pos": 15167050, "strand": "+", "start_pos": 15424394, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000442506", "id": "ENST00000442506", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000398411", "id": "ENSP00000398411", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y5G7-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 1419, "sequence": "XMTQLTVEKVMDWYQTRAEEIEHYARQLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRKQPPVSESHWRTLLQDMLTMQQNVYTCLDSDACYEIFTESLLCSSRLENIHLAGQMMHCSACSENPPAGIAHKGKPHYRVSYEKSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPPAIQEELDLIQAVGCLEEFGVKILPLQVRLCPDRISLIKECISQSPTCYKQSTKLLGLAELLRVAGENPEERRGQVLILLVEQALRFHDYKAASMHCQELMATGYPKSWDVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFQIHHEGGENISASPLTSKAVQEDEVGVPGSNSADLLRWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLTYLRPLQGQKCGGAYQIGTTANEDLEKQGCHPFYESVISNPFVAESEGTYDTYQHVPVESFAEVLLRTGKLAEAKNKGEVFPTTEVLLQLASEALPNDMTLALAYLLALPQVLDANRCFEKQSPSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRADPKELIKMVTRHVTRHEHEAWPEDLISLTKQLHCYNERLLDFTQAQILQGLRKGVDVQRFTADDQYKRETILGLAETLEESVYSIAISLAQRYSVSRWEVFMTHLEFLFTDSGLSTLEIENRAQDLHLFETLKTDPEAFHQHMVKYIYPTIGGFDHERLQYYFTLLENCGCADLGNCAIKPETHIRLLKKFKVVASGLNYKKLTDENMSPLEALEPVLSSQNILSISKLVPKIPEKDGQMLSPSSLYTIWLQKLFWTGDPHLIKQVPGSSPEWLHAYDVCMKYFDRLHPGDLITVVDAVTFSPKAVTKLSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKGEELVSPEDLLEWLRPFCADDAWPVRPRIHVLQILGQSFHLTEEDSKLLVFFRTEAILKASWPQRQVDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7BZR3-1", "isoform_ac": "H7BZR3-1", "locus": { "end_pos": 15167051, "strand": "+", "start_pos": 15190403, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000433283", "id": "ENST00000433283", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000390920", "id": "ENSP00000390920", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZR3-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 184, "sequence": "VDIADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEVNDSNCDQELLSLLLDAKLLVKCVSTPFYPRIVDHLLASLQQGRWDAEELGRHLREAGHEAEAGSLLLAVRGTHQAFRTFSTALRAAQHWV" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7BZU5-1", "isoform_ac": "H7BZU5-1", "locus": { "end_pos": 15393665, "strand": "+", "start_pos": 15417581, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000429842", "id": "ENST00000429842", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391476", "id": "ENSP00000391476", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7BZU5-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 204, "sequence": "XKELQQMKDIEKLRLLMNSCSEDKYVTSAYQWMVPFLHRCEKQSPGVANELLKEYLVTLAKGDLKFPLKIFQHSKPDLQQKIIPDQDQLMAIALECIYTCERNDQLCLCYDLLECLPERGYGDKTEATTKLHDMVDQLEQILSVSELLEKHGLEKPISFVKNTQSSSEEARKLMVRLTRHTGRNLFTTSLSVDIWVILSFGFYK" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C007-1", "isoform_ac": "H7C007-1", "locus": { "end_pos": 15190403, "strand": "+", "start_pos": 15238686, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000417461", "id": "ENST00000417461", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000392421", "id": "ENSP00000392421", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C007-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 171, "sequence": "LSVEARKEMTRKAIKTVKHFIEKPRKRNSEDEAQEAKDSKVTYADTLNHLEKSLAHLETLSHSFILSLKNSEQETLQKYSHLYDLSRSEKEKLHDEAVAICLDGQPLAMIQQLLEVAVGPLDISPKDIVQSAIMKIISALSGGSADLGGPRDPLKVLEGVVAAVHASVDKG" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C1U4-1", "isoform_ac": "H7C1U4-1", "locus": { "end_pos": 15483359, "strand": "+", "start_pos": 15511303, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000427792", "id": "ENST00000427792", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000402458", "id": "ENSP00000402458", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C1U4-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 100, "sequence": "XASSCGLSAWRVLSGSPYYKQVTNGGDGVTAVPKTLGLLRMLSVKFYSRQGQEQDGIFKMSLSPDGMLLAAIHFSGKLSIWAIPSLKQQGEWGQNEQVLD" } }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#H7C1Y9-1", "isoform_ac": "H7C1Y9-1", "locus": { "end_pos": 15178149, "strand": "+", "start_pos": 15190397, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000423602", "id": "ENST00000423602", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000403119", "id": "ENSP00000403119", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C1Y9-1|NBAS_HUMAN Computationally mapped isoform of Neuroblastoma-amplified sequence OS=Homo sapiens OX=9606 GN=NBAS PE=1 SV=1 CANONICAL=A2RRP1-1", "length": 137, "sequence": "IADIENEENRYCLFMELLESSHHEAEFQHLVLLLQAWPPMKSEYVITNNPWVRLATVMLTRCTMENKEGLGNEVLKMCRSLYNTKQMLPAEGVKELCLLLLNQSLLLPSLKLLLESRDEHLHEMALEQITAVTTDIF" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "resource": "KEGG Pathway", "id": "hsa:51594", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "description": "COPI-dependent Golgi-to-ER retrograde traffic", "resource": "Reactome", "id": "R-HSA-6811434", "name": "COPI-dependent Golgi-to-ER retrograde traffic" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "A novel compound heterozygous mutations of NBAS (NM_015909.3): c.680A > C (p.His227Pro) were identified in two siblings with acute liver failure.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "A novel homozygous truncating mutation in the NBAS gene was identified in a family with Acrofrontofacionasal Dysostosis type 1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "Data report two unrelated subjects with a trait associated with defective NBAS function sharing a previously unreported pathogenic 'synonymous' change demonstrated to affect proper NBAS transcript processing. Assessing the clinical features and signs of affected subjects with biallelic NBAS variants documents the occurrence of a recognizable facial profile for these patients.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#function", "annotation": "Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#function", "id": "A2RRP1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "NBAS was the only candidate gene mutated in more than one patient. All NBAS mutations were novel and predictedly pathogenic. Of these mutations, 3 lay in distal (C-terminal) regions of NBAS, a novel distribution. Unlike the 2 patients without NBAS mutations, the 3 patients with confirmed NBAS mutations all suffered from a febrile illness before each episode of liver crisis (fever-related recurrent acute liver failure) Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "The age of the mutation in Yakutia was estimated to be about 804 +/- 140 years. The frequency of heterozygous carriers of mutation G5741-->A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "annotation": "There may be a subset of NB in which enhanced DDX1 and low-NAG expression consequent to DDX1 co-amplification without NAG amplification contributes to susceptibility to intensive therapy.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "E9Q411-1", "protein_name": "Neuroblastoma-amplified sequence", "sequence": { "length": 2356, "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQLRGNRKHGASFIITKAIRDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFSGHYPHGINTAIYHPGHRLLLVGGCETAELGISKAASCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKLSPRLGQEQDGIFKMGLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYNELNPDWRLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSAKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGEVDSDSDPETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIDSEDYEEALCLAHTYGLDTDLVYQRQWRKSAVNSASIHNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDIDIDSIAYEELSPADKEPSKSKRQEELKKRRDLLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSHLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLTIIPWAEHKHRAEDWCEELECRMVVEPSLQDDSEFLYAAQPELLQYRTPQLTVEKVMAWYQSRAEDIEHHAGQVDCALSLVRLGVERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMEHCSEDNYVTSAYQWMVPFLHRCEKQSPGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGHNTKVTSSLHDMVDQLEKILSVSELLKTHGLEKPVSFVKNTQSSSEEARSLMVRLTRHTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACLDNPPAGALHKGRAQYRVSYERSIDLVLAASREYFNSSTNLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKTLPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEGRRGQVLILLVEQALHVHDYKVASMYCQQLMAAGYPESWAVCSQLGQSEGYQDLATRQELMAFALTHCPPSSIELLLEASSSLQTEILYQRVNFEIHPEGENISASPLPVKVLQEDAAALGSSSADLLHWTTATTMKVLSNTTTTTKAVLQAVSDGQWWKKSLAYLRPYQGQEFGRAYRIGIVANDDLERQGCHPFYESVIANPFVTEVPVESFAEVLLRTGKLTEAQTQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTGHVAQHGHEGWPEDLLSLSRQLHYYSERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAESLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSESGLSTGEIEKRAQTLHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCANFETTAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPGKHGQMLSPSSLYTVWLQKLFWAGDPHLIKQAPESSAEWLHACDVCLKYFDRLCPDDLITVMDAITFSPKAVSKLSVEAREEMTRKAIKTIKHFIEKPRKRNSEEDPQEGRGSQATYPDALAHLETSLAHLETLSHSFILSLRNSEQEILQKYSYFYDLSRSEKEKIHDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDIVHTAITQIISALSGGSADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDVLQWLRPFCAEDTYPVRPRIQVLQLLGQSFHLSEEDGKLLVFFRTEAILRAAWPQRQVDIADIENEENRHTLFSELLESSHREVEFQHLILLLQAWPPMKSECVLANNPWVRLVTAMLTRCTEENKQSLGDEVLKICRSLYNTTQMLPVEGVKELCLLLLHQSLLLPSLKLLLESGEESLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIVGHLVANNQQGRWNIEELARHLQEAGHEVEAGSLLLAVQGTHRVFRTFSIALSAVRQWV" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/41073", "id": "41073", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2RRP1/", "id": "A2RRP1", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Nbas", "tax_id": 10090 }, { "uniprot_canonical_ac": "F1M0U5-1", "protein_name": "NBAS subunit of NRZ tethering complex", "sequence": { "length": 2357, "sequence": "MAAPESAPALSPGSADEEETILYDLLVNTEWPPETEVQPRGNRKHGASFIITKAIKDHLLFLRQYIWYSPAPFLLPDGLVRLVNKQINWHLVLANNGKLLAAVQDQCVEIRSAKDDFTSIIGKCQVPKDPKPQWRRVAWSYDCTLLAYAESTGTVRVFDLMGSELFVIAPASVFAGDLSYAIAGLVFLEYKASAQWSAELLVINYRGELRSYLVSVGTNQSYQESHSFSFADHYPHGVNTAIYHPGHRLLLVGGCETAELGISKASSCGLSAWRVLSGSPYYKQVTNGGDRVTEVPKTLGLLKLLSVKFYTRQGQEQDGIFKMSLSPDGSLLAAIHFSGKLSIWAIPSLKQQGVWRQDEQPGYDELNPDWTLSPEKRKKVKDKESFYPLIDVNWWADGAVTLARCSGALTVSSSKSLKNLLGKSCEWFEPSPQVTATHDGGFLSLECEIKLAPKRSRVEMRAGEEDEGDVDSDWDHETSAKARYFGYIKQGLYLVTEMERFAPPRKRPRTITKNYRLVSLRSTTPEELYQRKIESEEYEEALSLAHTYGLDTDLVYQRQWRKSAVNIASIQNYLSKIKKRSWVLHECLERVPENVDAAKELLQYGLKGTDLEALVAIGKGVDDGRFTLPGDVDLDGITYEELSPPHKEPAQSKRQKELKKRHELLKLVNFSKLTLEQKELCRCRLKLLTFLDRLATYEEILGAPHASEQRYDAEFFKKFRSQNIVLSARTYARESNVQALEILLTYHGSDLLPHRLAILSNFPETTSPHEYAVLLPEACWNNDSLMIIPWAEQKHRAEDWCEELECRMVVEPGLQDDSEFLYAAQPELLQYRTPQLTVEKAMAWYRSRAQDIEHHAGQVDCALSLVRLGMERHIPGLLTLCDDLVTLETLVYEAGCDFTLTLKDLQQMKDFEKLRLLMERCSEDNYVTSAYQWMVPFLHRCEKQSAGAANELLREYLVTLAKGDLKLPLKIFQHSKPDLQQKIIPDEDQLMAIALECIYNCERSDQLSLCYDILECLPQRGCGLNTKVTSSLHDMVDQLEKILSVSELLKNHGLEKPVSFVKNTQSSSEEARSLMVRLTRRTGRKQPSVGESHWRMLLQDMLTMQQHVYTCLDSSACYEIFTESLLCSSRLENIHLAGQMMQCSACSDNLPAGVVHKGKPQYRVSYERSIDLVLAASREYFNSSTSLTDSCMDLARCCLQLITDRPAAIQEELDLIQALGYLEEFGVKILPLQVRLCSDRISLIKECVSQSPTCYKQSAKLLGLAELLRVAGEDPEERHGQVLILLVEQALNVHDYKAASTYCQELMAAGYPDSWDVCSQLGQAEGFRDLATRQELMAFALTHCPPSSIELLLAASSSLQTEILYQRVNFEIHPEGENINVVSPLTGKVLQEDDTSLGSSSADLLQWTTATTMRVLSNTTTTTRAVLQAVSDGQWWKKSLAYLRPLQGQDFGGAYRIGTVANDDLERQGCHPFYESVIANPFVTEVPVESLAEVLLRTGKLAEAKAQVFPTTEVLLQLASDALPNDMTLALAYLLALPQVLDANKCFEKQAHSALSLQLAAYYYSLQIYARLAPCFRDKCHPLYRVDPKELIKMVTRHVAQHGHEAWPEDLLSLTRQLHYYNERLLDFTQAQLLQGLRKGVDVQRFTADDQYKRETILGLAETLEENVYSIALSLAQRYSISQWEVFMTHLEFLFSDSGLSTGEIEKRAQALHLFDTLKTDPESFHKHMVKYIYPTIEGLDHERLLYYFTLLESCGCADFETAAIKPEIHIRLLKKFKVVASGLNYKKLTDKSEDALEALEPVLTSQNILSISKLAPRIPEKEGQMLSPSSLYTVWLQKLFWTGDPHLIKQAPESSAEWLHAYDVCLKYFDRLGPHDLITVVDAITFSPKAVSKLSVEAREEMTRKAIKTVKHFIEKPRKRNSEEDPQEGSGSQATYADALAHLETSLAHLETLSHSFILSLKNSEQEVLQKYSYLYDLSRAEKGKLNDQAVAMCLDGQPLRMIQQLLEVAIGPVNISPKDVVHTAITQIISSLSGTGADLCGSRDPLQVLEGVVGAVRTSVDNGEELVSAEDLLQWLRPFCAEDSCPVRPRIQVLQLLGQSFHLSEEDNKLLVFFRTEAILRAAWPQRQVDVADTESEESRHSLFMELLESSHHEVEFQHLILLLQAWPPMKSECVIANNLWVRLVTVMLTRCTTENKQRLGDEVLKICRSLYNSGQMLPVQGVKELCLLLLHQSLLLPSLKLLLESGDETLQAMALEQISAVTKVNDSNCDQELLSLLVDARLLVKCVSTPFYPHIIAHLVANNQQGRWNAEELARHLQEAGHEAEAGSLLLAVQGTHRVFRTFSTALSALRQWV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RRP1/", "id": "A2RRP1", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Nbas", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "comment": "Somatic mutation passed 2 out of 6 filters: patient freq. (2.4%); patient count (36/1514).", "sequence_org": "G", "start_pos": 1450, "alt_nt": "A", "chr_id": "2", "subjects_positive": "36", "chr_pos": "15468435", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.4", "sequence_mut": "V", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1450, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "R", "start_pos": 1004, "alt_nt": "T", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15542352", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "Q", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1004, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "T", "start_pos": 1030, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15536582", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "I", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1030, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "L", "start_pos": 1033, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15536574", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1033, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs557345395.", "sequence_org": "R", "start_pos": 1073, "alt_nt": "T", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15534390", "disease": [ { "disease_id": "DOID:4362", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "cervix cancer", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "tumor of the Cervix Uteri", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "cervix uteri cancer", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "cervical neoplasm", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterine cervix", "id": "DOID:4362" }, { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "", "name": "uterine cervical neoplasm", "id": "DOID:4362" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the cervix.", "name": "cervical cancer", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant uterine cervix tumor", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant tumor of cervix uteri", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant tumor of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervix uteri neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "tumor of the cervix uteri", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant tumor of the cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant tumor of cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervix uteri tumor", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant tumor of the uterine cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant neoplasm of cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervical tumor", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "uterine cervical neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant uterine cervix neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "uterine cervix cancer", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervix tumor", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cervical neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant neoplasm of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant neoplasm of cervix uteri", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant tumor of the cervix uteri", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cervix cancer", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervix neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the cervix uteri", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cervix uteri cancer", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant cervical neoplasm", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the uterine cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "neoplasm of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://monarchinitiative.org/disease/MONDO:0002974", "resource": "MONDO", "description": "", "name": "cancer of uterine cervix", "id": "MONDO:0002974" }, { "url": "https://www.omim.org/entry/603956", "resource": "MIM", "description": "Cervical cancer", "name": "Cervical cancer", "id": "MIM:603956" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4362", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the cervix.", "name": "cervical cancer", "id": "DOID:4362" } }, { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.3", "sequence_mut": "H", "subjects_tested": "350", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1073, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "A", "start_pos": 1177, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15519787", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1177, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "sequence_org": "I", "start_pos": 1242, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15506795", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "M", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1242, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs140188229.", "sequence_org": "R", "start_pos": 1334, "alt_nt": "T", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15493765", "disease": [ { "disease_id": "DOID:1793", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "pancreatic neoplasm", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "Ca head of pancreas", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of tail of pancreas", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "Ca tail of pancreas", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "pancreatic tumor", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of body of pancreas", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "Ca body of pancreas", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of head of pancreas", "id": "DOID:1793" }, { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "", "name": "pancreas neoplasm", "id": "DOID:1793" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1793", "resource": "Disease Ontology", "description": "An endocrine gland cancer located_in the pancreas.", "name": "pancreatic cancer", "id": "DOID:1793" } }, { "disease_id": "DOID:10534", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric neoplasm", "id": "DOID:10534" }, { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "", "name": "gastric cancer", "id": "DOID:10534" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the stomach.", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "ca greater curvature of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca lesser curvature - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant stomach neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "stomach cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric neoplasm", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of body of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "cancer of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lesser curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant gastric tumor", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of greater curve of stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "Ca body - stomach", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "gastric cancer, intestinal", "id": "MONDO:0001056" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001056", "resource": "MONDO", "description": "", "name": "malignant tumor of body of stomach", "id": "MONDO:0001056" }, { "url": "https://www.omim.org/entry/613659", "resource": "MIM", "description": "Gastric cancer", "name": "Gastric cancer", "id": "MIM:613659" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10534", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the stomach.", "name": "stomach cancer", "id": "DOID:10534" } }, { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.3", "sequence_mut": "H", "subjects_tested": "399", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1334, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "sequence_org": "A", "start_pos": 1456, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15468417", "disease": [ { "disease_id": "DOID:263", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "", "name": "renal cancer", "id": "DOID:263" }, { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of kidney", "id": "DOID:263" }, { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of kidney except pelvis", "id": "DOID:263" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:263", "resource": "Disease Ontology", "description": "A urinary system cancer that is located_in the kidney.", "name": "kidney cancer", "id": "DOID:263" } }, { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "V", "subjects_tested": "408", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1456, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "N", "start_pos": 1464, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15468393", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "S", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1464, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "K", "start_pos": 1519, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15467901", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1519, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "sequence_org": "L", "start_pos": 1639, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15432773", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "V", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1639, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%). In dbSNP: rs1341699816.", "sequence_org": "L", "start_pos": 1678, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15427303", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.0", "sequence_mut": "V", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1678, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "sequence_org": "E", "start_pos": 1706, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15427218", "disease": [ { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.1", "sequence_mut": "G", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1706, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs773927038.", "sequence_org": "E", "start_pos": 1757, "alt_nt": "T", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15417095", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:11934", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "tumor of head and neck", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head/neck neoplasm", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck tumours", "id": "DOID:11934" }, { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "", "name": "head and neck neoplasm", "id": "DOID:11934" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "name": "head and neck cancer", "id": "DOID:11934" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "K", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1757, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs556229592.", "sequence_org": "R", "start_pos": 1786, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15417008", "disease": [ { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - skin cancer", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of skin", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "melanoma and Non-melanoma skin cancer", "id": "DOID:4159" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "name": "skin cancer", "id": "DOID:4159" } }, { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.1", "sequence_mut": "*", "subjects_tested": "820", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1786, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "Y", "start_pos": 1800, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15415933", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "F", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 1800, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "sequence_org": "L", "start_pos": 2082, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15359085", "disease": [ { "disease_id": "DOID:2394", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant Ovarian tumor", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovarian neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "ovary neoplasm", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "primary ovarian cancer", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of ovary", "id": "DOID:2394" }, { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "", "name": "tumor of the Ovary", "id": "DOID:2394" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011931", "resource": "MONDO", "description": "", "name": "OVCAS1", "id": "MONDO:0011931" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas.", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, epithelial", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian cancer, NOS", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovary neoplasm", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "primary ovarian cancer", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "ovarian malignant tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "cancer of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant tumour of ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the ovary", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "malignant ovarian tumor", "id": "MONDO:0008170" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008170", "resource": "MONDO", "description": "", "name": "tumor of the ovary", "id": "MONDO:0008170" }, { "url": "https://www.omim.org/entry/167000", "resource": "MIM", "description": "Ovarian cancer", "name": "Ovarian cancer", "id": "MIM:167000" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2394", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the ovary.", "name": "ovarian cancer", "id": "DOID:2394" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "V", "subjects_tested": "93", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2082, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs550986350.", "sequence_org": "R", "start_pos": 2225, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15326904", "disease": [ { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } }, { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - skin cancer", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of skin", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "melanoma and Non-melanoma skin cancer", "id": "DOID:4159" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "name": "skin cancer", "id": "DOID:4159" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "C", "subjects_tested": "558", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2225, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs746756510.", "sequence_org": "R", "start_pos": 2263, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15319165", "disease": [ { "disease_id": "DOID:1612", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the breast", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "primary breast cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "breast tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary tumor", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "mammary cancer", "id": "DOID:1612" }, { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of breast", "id": "DOID:1612" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of the breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial cancer of breast", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial Male", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "breast cancer, familial", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "familial breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast cancer", "id": "MONDO:0016419" }, { "url": "https://monarchinitiative.org/disease/MONDO:0016419", "resource": "MONDO", "description": "", "name": "hereditary breast carcinoma", "id": "MONDO:0016419" }, { "url": "https://www.omim.org/entry/114480", "resource": "MIM", "description": "Breast cancer", "name": "Breast cancer", "id": "MIM:114480" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1612", "resource": "Disease Ontology", "description": "A thoracic cancer that originates in the mammary gland.", "name": "breast cancer", "id": "DOID:1612" } }, { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } }, { "disease_id": "DOID:363", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "CA - cancer of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterus neoplasm", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "neoplasm of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "Tumour of uterus", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "uterine tumor", "id": "DOID:363" }, { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of uterus", "id": "DOID:363" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:363", "resource": "Disease Ontology", "description": "A female reproductive organ cancer that is located_in the uterus.", "name": "uterine cancer", "id": "DOID:363" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.7", "sequence_mut": "*", "subjects_tested": "141", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2263, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "L", "start_pos": 2295, "alt_nt": "G", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15307404", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 2295, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "sequence_org": "I", "start_pos": 243, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15674686", "disease": [ { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } }, { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } }, { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.8", "sequence_mut": "V", "subjects_tested": "125", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 243, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "K", "start_pos": 382, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15618353", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "E", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 382, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "sequence_org": "S", "start_pos": 445, "alt_nt": "A", "chr_id": "2", "subjects_positive": "2", "chr_pos": "15615819", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "1.0", "sequence_mut": "C", "subjects_tested": "191", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 445, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "A", "start_pos": 48, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15698734", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "S", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 48, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "T", "start_pos": 53, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15698718", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 53, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "S", "start_pos": 570, "alt_nt": "G", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15613363", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 570, "minor_allelic_frequency": "", "ref_nt": "A" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "P", "start_pos": 71, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15694260", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "L", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 71, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "sequence_org": "S", "start_pos": 728, "alt_nt": "C", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15601830", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "LNCR4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "adenocarcinoma of lung, susceptibility to", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012942", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 3; LNCR3", "id": "MONDO:0012942" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5; LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013631", "resource": "MONDO", "description": "", "name": "LNCR5", "id": "MONDO:0013631" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "A malignant neoplasm involving the lung.", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "cancer of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "alveolar cell carcinoma", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung neoplasm", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant lung tumor", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "Nonsmall cell lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant tumor of lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the lung", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer", "id": "MONDO:0008903" }, { "url": "https://monarchinitiative.org/disease/MONDO:0008903", "resource": "MONDO", "description": "", "name": "lung cancer, protection against", "id": "MONDO:0008903" }, { "url": "https://www.omim.org/entry/211980", "resource": "MIM", "description": "Lung cancer", "name": "Lung cancer", "id": "MIM:211980" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "description": "A respiratory system cancer that is located_in the lung.", "name": "lung cancer", "id": "DOID:1324" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "1.5", "sequence_mut": "*", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 728, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.1%).", "sequence_org": "H", "start_pos": 975, "alt_nt": "A", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15555683", "disease": [ { "disease_id": "DOID:2531", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "malignant hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic neoplasm", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematological tumors", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic malignancy", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "hematopoietic and lymphoid system tumor", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "blood cancer", "id": "DOID:2531" }, { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "", "name": "Hematologic neoplasm", "id": "DOID:2531" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:2531", "resource": "Disease Ontology", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.", "name": "hematologic cancer", "id": "DOID:2531" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.1", "sequence_mut": "L", "subjects_tested": "48", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 975, "minor_allelic_frequency": "", "ref_nt": "T" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "I", "start_pos": 985, "alt_nt": "G", "chr_id": "2", "subjects_positive": "1", "chr_pos": "15542409", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "T", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 985, "minor_allelic_frequency": "", "ref_nt": "A" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "ac": "NP_056993.2", "name": "neuroblastoma-amplified sequence", "summary": "This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "pmid": "19369418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "SNARE binding", "id": "GO:0000149" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070939", "pmid": "20462495", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "Dsl1/NZR complex", "id": "GO:0070939" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "pmid": "19369418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "endoplasmic reticulum", "id": "GO:0005783" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "19946888", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 7, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "protein transport", "id": "GO:0015031" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "pmid": "19369418", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000956", "pmid": "23828042", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "nuclear-transcribed mRNA catabolic process", "id": "GO:0000956" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000623", "pmid": "23828042", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" } ], "name": "negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:2000623" } ], "total": 5, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 1185, "annotation": "n_glycosylation_sequon", "start_pos": 1183 }, { "end_pos": 1189, "annotation": "n_glycosylation_sequon", "start_pos": 1187 }, { "end_pos": 1382, "annotation": "n_glycosylation_sequon", "start_pos": 1380 }, { "end_pos": 1422, "annotation": "n_glycosylation_sequon", "start_pos": 1420 }, { "end_pos": 1809, "annotation": "n_glycosylation_sequon", "start_pos": 1807 }, { "end_pos": 222, "annotation": "n_glycosylation_sequon", "start_pos": 220 }, { "end_pos": 2250, "annotation": "n_glycosylation_sequon", "start_pos": 2248 }, { "end_pos": 2284, "annotation": "n_glycosylation_sequon", "start_pos": 2282 }, { "end_pos": 672, "annotation": "n_glycosylation_sequon", "start_pos": 670 } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RRP1", "id": "A2RRP1", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NBAS", "id": "NBAS", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/51594", "id": "51594", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15625", "id": "15625", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RRP1*", "id": "A2RRP1", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011044", "id": "IPR011044", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013244", "id": "IPR013244", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR016024", "id": "IPR016024", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029145", "id": "IPR029145", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "id": "IPR036322", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:51594", "id": "hsa:51594", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/608025", "id": "608025", "database": "MIM" }, { "url": "http://www.omim.org/entry/614800", "id": "614800", "database": "MIM" }, { "url": "http://www.omim.org/entry/616483", "id": "616483", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2RRP1", "id": "NX_A2RRP1", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/WWADGAV/", "id": "WWADGAV", "database": "OMA" }, { "url": "http://pfam.xfam.org/family/PF08314", "id": "PF08314", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF15492", "id": "PF15492", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2RRP1", "id": "A2RRP1", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2RRP1", "id": "PR_A2RRP1", "database": "PRO" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6811434", "id": "R-HSA-6811434", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993", "id": "NP_056993", "database": "RefSeq" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056993.2", "id": "NP_056993.2", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1-1", "id": "A2RRP1-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1-2", "id": "A2RRP1-2", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/C9JCM7", "id": "C9JCM7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/C9JCM7-1", "id": "C9JCM7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0Y5G7", "id": "H0Y5G7", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H0Y5G7-1", "id": "H0Y5G7-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7BZR3", "id": "H7BZR3", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7BZR3-1", "id": "H7BZR3-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7BZU5", "id": "H7BZU5", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7BZU5-1", "id": "H7BZU5-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C007", "id": "H7C007", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C007-1", "id": "H7C007-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C1U4", "id": "H7C1U4", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C1U4-1", "id": "H7C1U4-1", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C1Y9", "id": "H7C1Y9", "database": "UniProtKB" }, { "url": "https://www.uniprot.org/uniprot/H7C1Y9-1", "id": "H7C1Y9-1", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:10283", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "hereditary prostate cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate neoplasm", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostatic cancer", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "NGP - new growth of prostate", "id": "DOID:10283" }, { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "", "name": "prostate cancer, familial", "id": "DOID:10283" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "HPC4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 4", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012094", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, on chromosome 7", "id": "MONDO:0012094" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene.", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "EHBP1 familial prostate cancer", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12; HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in EHBP1", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "HPC12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012741", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 12", "id": "MONDO:0012741" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "HPC5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012244", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 5", "id": "MONDO:0012244" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "HPC3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012093", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 3", "id": "MONDO:0012093" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene.", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13; HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "MSMB familial prostate cancer", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "HPC13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 13", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012758", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in MSMB", "id": "MONDO:0012758" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "predisposing for prostate cancer", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011270", "resource": "MONDO", "description": "", "name": "HPC8", "id": "MONDO:0011270" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012300", "resource": "MONDO", "description": "", "name": "HPC6", "id": "MONDO:0012300" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "HPC9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012597", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 9", "id": "MONDO:0012597" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma.", "name": "familial prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "familial prostate cancer", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "prostate cancer, familial", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023122", "resource": "MONDO", "description": "", "name": "hereditary prostate carcinoma", "id": "MONDO:0023122" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer aggressiveness", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012470", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 7; HPC7", "id": "MONDO:0012470" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene.", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, type 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "familial prostate cancer caused by mutation in RNASEL", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "RNASEL familial prostate cancer", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 1; HPC1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0011098", "resource": "MONDO", "description": "", "name": "Prca1", "id": "MONDO:0011098" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012768", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 11; HPC11", "id": "MONDO:0012768" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14; HPC14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012769", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 14", "id": "MONDO:0012769" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012770", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 15; HPC15", "id": "MONDO:0012770" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer susceptibility, X-linked", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010257", "resource": "MONDO", "description": "", "name": "HPCX1", "id": "MONDO:0010257" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0010405", "resource": "MONDO", "description": "", "name": "HPCX2", "id": "MONDO:0010405" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "prostate cancer, hereditary, 10; HPC10", "id": "MONDO:0012620" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012620", "resource": "MONDO", "description": "", "name": "HPC10", "id": "MONDO:0012620" }, { "url": "https://www.omim.org/entry/611868", "resource": "MIM", "description": "Prostate cancer, hereditary, 12", "name": "Prostate cancer, hereditary, 12", "id": "MIM:611868" }, { "url": "https://www.omim.org/entry/611928", "resource": "MIM", "description": "Prostate cancer, hereditary, 13", "name": "Prostate cancer, hereditary, 13", "id": "MIM:611928" }, { "url": "https://www.omim.org/entry/176807", "resource": "MIM", "description": "Prostate cancer", "name": "Prostate cancer", "id": "MIM:176807" }, { "url": "https://www.omim.org/entry/601518", "resource": "MIM", "description": "Prostate cancer, hereditary, 1", "name": "Prostate cancer, hereditary, 1", "id": "MIM:601518" }, { "url": "https://www.omim.org/entry/611955", "resource": "MIM", "description": "Prostate cancer, hereditary, 11", "name": "Prostate cancer, hereditary, 11", "id": "MIM:611955" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "description": "A male reproductive organ cancer that is located_in the prostate.", "name": "prostate cancer", "id": "DOID:10283" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:11054", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "bladder cancer", "id": "DOID:11054" }, { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "", "name": "tumor of the bladder", "id": "DOID:11054" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the bladder.", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant urinary bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder malignant tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder tumor", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm, urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "urinary bladder cancer", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant bladder neoplasm", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "tumor of the bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant neoplasm of bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "cancer of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://monarchinitiative.org/disease/MONDO:0001187", "resource": "MONDO", "description": "", "name": "malignant tumor of urinary bladder", "id": "MONDO:0001187" }, { "url": "https://www.omim.org/entry/109800", "resource": "MIM", "description": "Bladder cancer", "name": "Bladder cancer", "id": "MIM:109800" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "name": "urinary bladder cancer", "id": "DOID:11054" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3571", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "resectable malignant neoplasm of the liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "neoplasm of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "Resectable malignant neoplasm of Liver", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of liver, not specified as primary or secondary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "ca liver - primary", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "non-resectable primary hepatic malignant neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "primary liver cancer", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "malignant hepato-biliary neoplasm", "id": "DOID:3571" }, { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "", "name": "hepatic cancer", "id": "DOID:3571" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "description": "A hepatobiliary system cancer that is located_in the liver.", "name": "liver cancer", "id": "DOID:3571" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": [ { "disease_id": "DOID:3907", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "", "name": "Epidermoid cell carcinoma of the lung", "id": "DOID:3907" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "name": "lung squamous cell carcinoma", "id": "DOID:3907" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:3910", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "nonsmall cell adenocarcinoma", "id": "DOID:3910" }, { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "", "name": "bronchogenic lung adenocarcinoma", "id": "DOID:3910" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "description": "A lung cancer that derives_from epithelial cells of glandular origin.", "name": "lung adenocarcinoma", "id": "DOID:3910" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "disease_id": "DOID:5041", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "esophagus cancer", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca middle third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Distal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Proximal Third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of the middle Third of the esophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "Ca lower third oesophagus", "id": "DOID:5041" }, { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "DOID:5041" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "A primary or metastatic malignant neoplasm involving the esophagus.", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of abdominal esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "gastric cardia adenocarcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "cancer of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of lower third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Escc, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of upper third esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Aerodigestive tract cancer, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of middle third of oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of proximal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca lower third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the middle third of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophageal neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus neoplasm", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant esophagus tumor", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophagus cancer", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant neoplasm of distal third of esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "Ca middle third oesophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "malignant tumor of the esophagus", "id": "MONDO:0007576" }, { "url": "https://monarchinitiative.org/disease/MONDO:0007576", "resource": "MONDO", "description": "", "name": "esophageal squamous cell carcinoma, susceptibility to", "id": "MONDO:0007576" }, { "url": "https://www.omim.org/entry/133239", "resource": "MIM", "description": "Esophageal cancer", "name": "Esophageal cancer", "id": "MIM:133239" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "name": "esophageal cancer", "id": "DOID:5041" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RRP1", "id": "A2RRP1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "Yes" } ], "glycosylation": [], "mutagenesis": [], "disease": [ { "disease_id": "MONDO:0013889", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "short stature-optic atrophy-Pelger-Hut anomaly syndrome", "id": "MONDO:0013889" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "soph syndrome", "id": "MONDO:0013889" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "soph", "id": "MONDO:0013889" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "short stature, optic nerve atrophy, and Pelger-Huet anomaly", "id": "MONDO:0013889" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "short stature with optic atrophy and Pelger-Hut anomaly syndrome", "id": "MONDO:0013889" }, { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "short stature, optic nerve atrophy, and Pelger-Huet anomaly; soph", "id": "MONDO:0013889" }, { "url": "https://www.omim.org/entry/614800", "resource": "MIM", "description": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly", "name": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly", "id": "MIM:614800" } ], "recommended_name": { "url": "https://monarchinitiative.org/disease/MONDO:0013889", "resource": "MONDO", "description": "", "name": "short stature-optic atrophy-Pelger-HuC+t anomaly syndrome", "id": "MONDO:0013889" }, "evidence": [ { "url": "https://www.omim.org/entry/614800", "id": "614800", "database": "MIM" } ] }, { "disease_id": "MONDO:0014659", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "", "name": "infantile liver failure syndrome 2", "id": "MONDO:0014659" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "", "name": "infantile liver failure caused by mutation in NBAS", "id": "MONDO:0014659" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "", "name": "infantile liver failure syndrome type 2", "id": "MONDO:0014659" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "", "name": "ILFS2", "id": "MONDO:0014659" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "", "name": "infantile liver failure syndrome 2; ILFS2", "id": "MONDO:0014659" }, { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "", "name": "NBAS infantile liver failure", "id": "MONDO:0014659" }, { "url": "https://www.omim.org/entry/616483", "resource": "MIM", "description": "Infantile liver failure syndrome 2", "name": "Infantile liver failure syndrome 2", "id": "MIM:616483" } ], "recommended_name": { "url": "https://monarchinitiative.org/disease/MONDO:0014659", "resource": "MONDO", "description": "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.", "name": "fever-associated acute infantile liver failure syndrome", "id": "MONDO:0014659" }, "evidence": [ { "url": "https://www.omim.org/entry/616483", "id": "616483", "database": "MIM" } ] } ], "phosphorylation": [ { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26592762", "id": "26592762", "database": "PubMed" } ], "start_pos": 1443, "end_pos": 1443, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 2052, "end_pos": 2052, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18452278", "id": "18452278", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18491316", "id": "18491316", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19651622", "id": "19651622", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20166139", "id": "20166139", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RRP1.html", "id": "A2RRP1", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23186163", "id": "23186163", "database": "PubMed" } ], "start_pos": 473, "end_pos": 473, "kinase_uniprot_canonical_ac": "" }, { "residue": "Ser", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19651622", "id": "19651622", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20166139", "id": "20166139", "database": "PubMed" }, { "url": "http://phospho.elm.eu.org/byAccession/A2RRP1.html", "id": "A2RRP1", "database": "phospho.ELM" }, { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1", "id": "A2RRP1", "database": "iPTMnet" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 475, "end_pos": 475, "kinase_uniprot_canonical_ac": "Q6P1J9-1" }, { "residue": "Ser", "comment": "Phosphoserine", "kinase_gene_name": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "id": "A2RRP1", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18669648", "id": "18669648", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19690332", "id": "19690332", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21406692", "id": "21406692", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24275569", "id": "24275569", "database": "PubMed" } ], "start_pos": 475, "end_pos": 475, "kinase_uniprot_canonical_ac": "" }, { "residue": "Thr", "comment": "", "kinase_gene_name": "CDC73", "evidence": [ { "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2RRP1-1", "id": "A2RRP1-1", "database": "iPTMnet" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20068231", "id": "20068231", "database": "PubMed" } ], "start_pos": 511, "end_pos": 511, "kinase_uniprot_canonical_ac": "Q6P1J9-1" } ], "mass": { "monoisotopic_mass": 268571.0, "chemical_mass": 268571.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000151779", "id": "ENSG00000151779", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1", "name": "NBAS", "locus": { "end_pos": 15166909, "strand": "-", "start_pos": 15561330, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000151779", "id": "ENSG00000151779", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2RRP1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Neuroblastoma-amplified gene protein" }, { "url": "https://www.uniprot.org/uniprot/A2RRP1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Neuroblastoma-amplified sequence" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRP1", "type": "synonym", "resource": "RefSeq", "name": "neuroblastoma amplified sequence; neuroblastoma-amplified gene protein; NAG/BC035112 fusion; NAG/FAM49A fusion" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RRP1", "type": "synonym", "resource": "RefSeq", "name": "neuroblastoma-amplified sequence" } ] }