{ "uniprot_canonical_ac": "A1A4S6-1", "ptm_annotation": [ { "annotation": "Phosphorylated. Phosphorylated in vitro by constitutive active PKN3.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11432776", "id": "11432776", "database": "PubMed" } ] } ], "sequence": { "header": "sp|A1A4S6-1|RHG10_HUMAN Isoform 1 of Rho GTPase-activating protein 10 OS=Homo sapiens OX=9606 GN=ARHGAP10 PE=1 SV=1 CANONICAL=A1A4S6-1", "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLIAATKSLSVAQRKFAHSLRDFKFEFIGDAVTDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETEKNYSLIDKHLNLSAKKKDSHLQEADIQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELAKDFNHYKMELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDHKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKAAKKFNMIPFEHRSGGKLGDGEVFFLKECTKRHTDSIDRRFCFDIEAADRPGVSLTMQAFSEEERKQWLEALGGKEALSHSFNTAIIPRPEGNAQLDKMGFTIIRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNEVDLENSADWEVKTITSALKQYLRSLPEPLMTYELHGDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSNHSKQNLMTVANLGVVFGPTLMRPQEETVAALMDLKFQNIVVEILIENHEKIFRTPPDTTFPEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEDGDNPYPSKEDTPTSSLDSLSSPSPVTTAVPGPPGPDKNHLLADGGSFGDWASTIPGQTRSSMVQWLNPQSPTTTSSNSAVTPLSPGSSPFPFSPPATVADKPPESIRSRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" }, "uniprot_id": "RHG10_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "GTPase activator activity", "id": "GO:0005096" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "GTPase activator activity", "id": "GO:0005096" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "perinuclear region of cytoplasm", "id": "GO:0048471" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "negative regulation of apoptotic process", "id": "GO:0043066" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "cytoskeleton organization", "id": "GO:0007010" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "signal transduction", "id": "GO:0007165" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051056", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" } ], "name": "regulation of small GTPase mediated signal transduction", "id": "GO:0051056" } ], "total": 4, "name": "Biological Process" } ] }, "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/11432776", "type": "PubMed", "id": "11432776" } ], "title": "PKNbeta interacts with the SH3 domains of Graf and a novel Graf related protein, Graf2, which are GTPase activating proteins for Rho family.", "journal": "J. Biochem.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6", "id": "A1A4S6", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Ono Y., Matsumoto M., Mukai H., Shibata H., Oishi K., Yamagiwa A.", "date": "2001" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15471851", "type": "PubMed", "id": "15471851" } ], "title": "Identification and characterization of PS-GAP as a novel regulator of caspase-activated PAK-2.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Koeppel MA, McCarthy CC, Moertl E, Jakobi R", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19911011", "type": "PubMed", "id": "19911011" } ], "title": "Mutation of ARHGAP9 in patients with coronary spastic angina.", "journal": "Journal of human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Takefuji M, Asano H, Mori K, Amano M, Kato K, Watanabe T, Morita Y, Katsumi A, Itoh T, Takenawa T, Hirashiki A, Izawa H, Nagata K, Hirayama H, Takatsu F, Naoe T, Yokota M, Kaibuchi K", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20031603", "type": "PubMed", "id": "20031603" } ], "title": "A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project.", "journal": "Circulation. Cardiovascular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Marroni F, Pfeufer A, Aulchenko YS, Franklin CS, Isaacs A, Pichler I, Wild SH, Oostra BA, Wright AF, Campbell H, Witteman JC, Kaab S, Hicks AA, Gyllensten U, Rudan I, Meitinger T, Pattaro C, van Duijn CM, Wilson JF, Pramstaller PP", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20332263", "type": "PubMed", "id": "20332263" } ], "title": "A genome-wide association study of prognosis in breast cancer.", "journal": "Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Azzato EM, Pharoah PD, Harrington P, Easton DF, Greenberg D, Caporaso NE, Chanock SJ, Hoover RN, Thomas G, Hunter DJ, Kraft P", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27010858", "type": "PubMed", "id": "27010858" } ], "title": "ARHGAP10, downregulated in ovarian cancer, suppresses tumorigenicity of ovarian cancer cells.", "journal": "Cell death & disease", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Luo N, Guo J, Chen L, Yang W, Qu X, Cheng Z", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31445707", "type": "PubMed", "id": "31445707" } ], "title": "CXCL12 promotes human ovarian cancer cell invasion through suppressing ARHGAP10 expression.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Luo N, Chen DD, Liu L, Li L, Cheng ZP", "date": "2019" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31789419", "type": "PubMed", "id": "31789419" } ], "title": "miR3373p inhibits gastric tumor metastasis by targeting ARHGAP10.", "journal": "Molecular medicine reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Wang Z, Yao L, Li Y, Hao B, Wang M, Wang J, Gu W, Zhan H, Liu G, Wu Q", "date": "2020" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/8288572", "type": "PubMed", "id": "8288572" } ], "title": "Characterization of rhoGAP. A GTPase-activating protein for rho-related small GTPases.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ], "authors": "Lancaster CA, Taylor-Harris PM, Self AJ, Brill S, van Erp HE, Hall A", "date": "1994" } ], "uniprot_ac": "A1A4S6", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A4S6", "type": "synonym", "resource": "RefSeq", "name": "ARHGAP10" }, { "url": "https://www.uniprot.org/uniprot/A1A4S6", "type": "recommended", "resource": "UniProtKB", "name": "ARHGAP10" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A4S6", "type": "synonym", "resource": "RefSeq", "name": "GRAF2; PS-GAP; PSGAP" }, { "url": "https://www.uniprot.org/uniprot/A1A4S6", "type": "synonym", "resource": "UniProtKB", "name": "GRAF2" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6#A1A4S6-1", "isoform_ac": "A1A4S6-1", "locus": { "end_pos": 147732302, "strand": "-", "start_pos": 148072078, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000336498", "id": "ENST00000336498", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000336923", "id": "ENSP00000336923", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1A4S6-1|RHG10_HUMAN Isoform 1 of Rho GTPase-activating protein 10 OS=Homo sapiens OX=9606 GN=ARHGAP10 PE=1 SV=1 CANONICAL=A1A4S6-1", "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLIAATKSLSVAQRKFAHSLRDFKFEFIGDAVTDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETEKNYSLIDKHLNLSAKKKDSHLQEADIQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELAKDFNHYKMELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDHKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKAAKKFNMIPFEHRSGGKLGDGEVFFLKECTKRHTDSIDRRFCFDIEAADRPGVSLTMQAFSEEERKQWLEALGGKEALSHSFNTAIIPRPEGNAQLDKMGFTIIRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNEVDLENSADWEVKTITSALKQYLRSLPEPLMTYELHGDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSNHSKQNLMTVANLGVVFGPTLMRPQEETVAALMDLKFQNIVVEILIENHEKIFRTPPDTTFPEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEDGDNPYPSKEDTPTSSLDSLSSPSPVTTAVPGPPGPDKNHLLADGGSFGDWASTIPGQTRSSMVQWLNPQSPTTTSSNSAVTPLSPGSSPFPFSPPATVADKPPESIRSRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" } }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#H0Y8W5-1", "isoform_ac": "H0Y8W5-1", "locus": { "end_pos": 147881867, "strand": "-", "start_pos": 148072080, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000507661", "id": "ENST00000507661", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000422358", "id": "ENSP00000422358", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0Y8W5-1|RHG10_HUMAN Computationally mapped isoform of Rho GTPase-activating protein 10 OS=Homo sapiens OX=9606 GN=ARHGAP10 PE=1 SV=1 CANONICAL=A1A4S6-1", "length": 413, "sequence": "XCTKRHTDSIDRRFCFDIEAADRPGVSLTMQAFSEEERKQWLEALGGKEALSHSFNTAIIPRPEGNAQLDKMGFTIIRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNEVDLENSADWEVKTITSALKQYLRSLPEPLMTYELHGDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSNHSKQNLMTVANLGVVFGPTLMRPQEETVAALMDLKFQNIVVEILIENHEKIFRTPPDTTFPEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEDGDNPYPSKEDTPTSSLDSLSSPSPVTTAVPGPPGPDKNHLLADGGSFGDWASTIIRSRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79658", "resource": "KEGG Pathway", "id": "hsa:79658", "name": "" }, { "reaction_list": [ "R-HSA-194854", "R-HSA-194894", "R-HSA-194913", "R-HSA-194922", "R-HSA-195146" ], "resource": "Reactome", "description": "Rho GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194840", "id": "R-HSA-194840", "name": "Rho GTPase cycle" }, { "reaction_list": [ "R-HSA-211716", "R-HSA-211731" ], "resource": "Reactome", "description": "Regulation of PAK-2p34 activity by PS-GAP/RHG10", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211728", "id": "R-HSA-211728", "name": "Regulation of PAK-2p34 activity by PS-GAP/RHG10" } ], "reaction_participants": [], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "ARHGAP10 may serve as a tumor suppressor through inactivating Cdc42, as well as inhibiting cell cycle, replication and BER pathways. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1A4S6#function", "annotation": "GTPase activator for the small GTPases RhoA and Cdc42 by converting them to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A4S6#function", "id": "A1A4S6", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "MiR3373p inhibits gastric tumor metastasis by targeting ARHGAP10.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "PS-GAP is a novel regulator of caspase-activated PAK-2", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "annotation": "These findings suggest that CXCL12/CXCR4 promotes ovarian cancer cell invasion by suppressing ARHGAP10 expression, which is mediated by VEGF/VEGFR2 signaling.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078881.3", "id": "NP_078881.3", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4AB50-1", "protein_name": "RCG51408", "sequence": { "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLIAATKSLSAAQRKFAHSLRDFKFEFIGDAETDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETERNYSLIDKHLTLSARKKDTHLQEADLQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELSKDFNHYKTELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDQKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKTAKKFNMIPFEHRSGGKLGDGEAFFLKECTKRHIDSTDRRFCFDIEAADRPGVPLTVQAFSEEERKQWLEALGGKEALFHTFNRAIVPRPEGGAQLDKMGFTILRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKTCNELDLENSTDWEVKTVTSALKQYLRSLPEPLMTYELHRDFIVPAKSGSPESRVSAIHFLVHKLPEKNKEMLDILVKHLTNVSSHSKQNLMTVANLGVVFGPTLMRPQEETVAAIMDLKFQNIVVEILIENHEKIFRTSPDTTFAEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEEGDSPSPLKEDPPSSSQDSLSTPSPTTSAAHGPPGPDGNHLAADRGNCGDATATTPSQTRPSMVQWLNMQSPTTPSSNPAGTPPSPRMSPFPLSPAASIVDKLPECLINRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12695", "id": "12695", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Arhgap10", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q6Y5D8-1", "protein_name": "Rho GTPase-activating protein 10", "sequence": { "length": 786, "sequence": "MGLQPLEFSDCYLDSPWFRERIRAHEAELERTNKFIKELIKDGKNLISATKSLSAAQRKFAHSLRDFKFEFIGDAETDDERCIDASLREFSNFLKNLEEQREIMALSVTETLIKPLEKFRKEQLGAVKEEKKKFDKETEKNYSLIDKHLTLSARKKDSHLQEADLQVEQNRQHFYELSLEYVCKLQEIQERKKFEFVEPMLSFFQGMFTFYHQGHELSKDFNHYKMELQINIQNTRNRFEGTRSEVEELMNKIRQNPKDQKRASQFTAEGYLYVQEKRPAPFGSSWVKHYCMYRKTAKKFNMIPFEHRSGGKLGDGEAFFLKECTKRHMDSTDRRFCFDIEAADRPGVPLTVQAFSEEERKQWLEALGGKEALFHTFNRAIVPRPEGGAQLDKMGFTILRKCISAVETRGINDQGLYRVVGVSSKVQRLLSMLMDVKMCNELDLENSADWEVKTVTSALKQYLRSLPEPLMTYELHRDFIVPAKSGSPESRVNAIHFLVHKLPEKNKEMLDILVKHLTNVSSHSKQNLMTVANLGVVFGPTLMRPQEETVAAIMDLKFQNIVVEILIENHEKIFRTSPDTTFAEPTCLSASPPNAPPRQSKRQGQRTKRPVAVYNLCLELEEGDSPSPLKEDPPSSSQDSLSTPSPTTSAAHGPPGLDGNHLAADGGSCGDATATTPSQTRPSMVQWLNMQSPTTPSSNPAGTPPSPRMSPFPLSPAASIVDKLPECVINRKARAVYPCEAEHSSELSFEIGAIFEDVQTSREPGWLEGTLNGKRGLIPQNYVKLL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/12695", "id": "12695", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Arhgap10", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "K", "start_pos": 140, "alt_nt": "G", "chr_id": "4", "ref_nt": "A", "chr_pos": "148778738", "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/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"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 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"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: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", 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"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", 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"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", 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"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: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" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "0.2", "sequence_mut": "G", "subjects_tested": "412", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "end_pos": 315, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "start_pos": 671, "alt_nt": "T", "chr_id": "4", "ref_nt": "G", "chr_pos": "148968186", "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/A1A4S6", "id": "A1A4S6", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.5", "sequence_mut": "Y", "subjects_tested": "66", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "end_pos": 671, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "R", "start_pos": 681, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "148984312", "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" } }, { "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": 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