{ "uniprot_canonical_ac": "A2PYH4-1", "uniprot_ac": "A2PYH4", "uniprot_id": "HFM1_HUMAN", "mass": { "chemical_mass": 162610.0, "monoisotopic_mass": 162610.0 }, "refseq": { "ac": "NP_001017975", "name": "probable ATP-dependent DNA helicase HFM1", "summary": "The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, "gene_names": [ { "name": "HFM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4" }, { "name": "HFM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975", "id": "NP_001017975" }, { "name": "SEC3D1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2PYH4", "id": "A2PYH4" }, { "name": "helicase; MER3; POF9; SEC63D1; Si-11; Si-11-6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975", "id": "NP_001017975" } ], "protein_names": [ { "name": "Probable ATP-dependent DNA helicase HFM1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2PYH4#names_and_taxonomy", "id": "A2PYH4" }, { "name": "3.6.4.12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2PYH4#names_and_taxonomy", "id": "A2PYH4" }, { "name": "SEC63 domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2PYH4#names_and_taxonomy", "id": "A2PYH4" }, { "name": "helicase-like protein HFM1; SEC63 domain-containing protein 1; HFM1, ATP dependent DNA helicase homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975", "id": "NP_001017975" }, { "name": "probable ATP-dependent DNA helicase HFM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975", "id": "NP_001017975" } ], "function": [ { "annotation": "A novel heterozygous missense mutation in HFM1 (c.3470G > A) associated with premature ovarian insufficiency (POI) is in the affected family members and absent in the unaffected family members in China. Results of the minigene assay reveals that the mutation changes the mRNA splicing repertory. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, { "database": "PubMed", "id": "31279343", "url": "https://glygen.org/publication/PubMed/31279343" } ] }, { "annotation": "Data suggest that HFM1 gene might be associated with primary ovarian insufficiency in Chinese population.", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, { "database": "PubMed", "id": "26679638", "url": "https://glygen.org/publication/PubMed/26679638" } ] }, { "annotation": "Exome sequencing of two Chinese sisters with primary ovarian insufficiency and their parents identified a shared compound heterozygous mutation in a meiotic gene, HFM1, which encodes a protein necessary for homologous recombination of chromosomes.", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, { "database": "PubMed", "id": "24597873", "url": "https://glygen.org/publication/PubMed/24597873" } ] }, { "annotation": "HHFM1 is the evolutionally conserved putative human DNA helicase, which may function as a modulator for genome integrity in germ-line tissues.", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, { "database": "PubMed", "id": "17286053", "url": "https://glygen.org/publication/PubMed/17286053" } ] }, { "annotation": "Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, { "database": "PubMed", "id": "34429122", "url": "https://glygen.org/publication/PubMed/34429122" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" }, { "database": "PubMed", "id": "20800603", "url": "https://glygen.org/publication/PubMed/20800603" } ] }, { "annotation": "Required for crossover formation and complete synapsis of homologous chromosomes during meiosis.", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4#function" }, { "database": "PubMed", "id": "D3Z4R1", "url": "https://glygen.org/publication/PubMed/D3Z4R1" } ] }, { "annotation": "The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ] } ], "disease": [ { "disease_id": "DOID:5426", "recommended_name": { "id": "DOID:5426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5426", "name": "premature ovarian failure", "description": "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40." }, "synonyms": [ { "id": "DOID:5426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5426", "name": "hypergonadotropic hypogonadism", "description": "" }, { "id": "DOID:5426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5426", "name": "premature menopause", "description": "" }, { "id": "DOID:5426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5426", "name": "premature ovarian insufficiency", "description": "" }, { "id": "DOID:5426", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5426", "name": "primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure 5", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "NOBOX primary ovarian failure", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure 5; Pof5", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "primary ovarian failure caused by mutation in NOBOX", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "Pof5", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure 5", "description": "" }, { "id": "MONDO:0012689", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012689", "name": "premature ovarian failure type 5", "description": "" }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "premature ovarian failure 2B", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "premature ovarian failure 2B; POF2B", "description": "" }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "premature ovarian failure type 2B", "description": "" }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "POF2B", "description": "" }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "POF1B primary ovarian failure", "description": "" }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "premature ovarian failure 2B", "description": "" }, { "id": "MONDO:0010373", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010373", "name": "primary ovarian failure caused by mutation in POF1B", "description": "" }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "premature ovarian failure 9", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "premature ovarian failure 9; Pof9", "description": "" }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "HFM1 primary ovarian failure", "description": "" }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "Pof9", "description": "" }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "premature ovarian failure 9", "description": "" }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "primary ovarian failure caused by mutation in HFM1", "description": "" }, { "id": "MONDO:0014322", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014322", "name": "premature ovarian failure type 9", "description": "" }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "premature ovarian failure 8", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene." }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "premature ovarian failure 8; POF8", "description": "" }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "STAG3 primary ovarian failure", "description": "" }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "POF8", "description": "" }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "premature ovarian failure 8", "description": "" }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "premature ovarian failure type 8", "description": "" }, { "id": "MONDO:0014321", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014321", "name": "primary ovarian failure caused by mutation in STAG3", "description": "" }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "premature ovarian failure 2A", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "primary ovarian failure caused by mutation in DIAPH2", "description": "" }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "premature ovarian failure 2A; POF2A", "description": "" }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "premature ovarian failure type 2A", "description": "" }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "DIAPH2 primary ovarian failure", "description": "" }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "POF2A", "description": "" }, { "id": "MONDO:0010350", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010350", "name": "premature ovarian failure 2A", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure 1", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure type 1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "FMR1-related premature ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "familial premature ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "fragile X-associated primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "idiopathic familial premature ovarian failure", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "ovarian failure, premature", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "primary ovarian failure caused by mutation in FMR1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure, X-linked", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "hypergonadotropic ovarian failure, X-linked", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "Pof1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "FMR1-related primary ovarian insufficiency", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure 1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "premature ovarian failure 1; Pof1", "description": "" }, { "id": "MONDO:0010706", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010706", "name": "FMR1 primary ovarian failure", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "premature ovarian failure 7", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "Pof7", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "premature ovarian failure 7", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "premature ovarian failure type 7", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "NR5A1 primary ovarian failure", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "adrenal insufficiency, Nr5A1-related", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "premature ovarian failure 7; Pof7", "description": "" }, { "id": "MONDO:0013065", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013065", "name": "primary ovarian failure caused by mutation in NR5A1", "description": "" }, { "id": "MONDO:0012169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012169", "name": "premature ovarian failure 3", "description": "" }, { "id": "MONDO:0012169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012169", "name": "premature ovarian failure type 3", "description": "" }, { "id": "MONDO:0012169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012169", "name": "premature ovarian failure 3; Pof3", "description": "" }, { "id": "MONDO:0012169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012169", "name": "Pof3", "description": "" }, { "id": "MONDO:0012169", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012169", "name": "premature ovarian failure 3", "description": "" }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "premature ovarian failure 6", "description": "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "premature ovarian failure type 6", "description": "" }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "FIGLA primary ovarian failure", "description": "" }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "primary ovarian failure caused by mutation in FIGLA", "description": "" }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "premature ovarian failure 6; Pof6", "description": "" }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "Pof6", "description": "" }, { "id": "MONDO:0012861", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012861", "name": "premature ovarian failure 6", "description": "" }, { "id": "MIM:611548", "resource": "MIM", "url": "https://www.omim.org/entry/611548", "name": "Premature ovarian failure 5", "description": "Premature ovarian failure 5" }, { "id": "MIM:300604", "resource": "MIM", "url": "https://www.omim.org/entry/300604", "name": "Premature ovarian failure 2B", "description": "Premature ovarian failure 2B" }, { "id": "MIM:615724", "resource": "MIM", "url": "https://www.omim.org/entry/615724", "name": "Premature ovarian failure 9", "description": "Premature ovarian failure 9" }, { "id": "MIM:615723", "resource": "MIM", "url": "https://www.omim.org/entry/615723", "name": "Premature ovarian failure 8", "description": "Premature ovarian failure 8" }, { "id": "MIM:300511", "resource": "MIM", "url": "https://www.omim.org/entry/300511", "name": "Premature ovarian failure 2A", "description": "Premature ovarian failure 2A" }, { "id": "MIM:311360", "resource": "MIM", "url": "https://www.omim.org/entry/311360", "name": "Premature ovarian failure 1", "description": "Premature ovarian failure 1" }, { "id": "MIM:612964", "resource": "MIM", "url": "https://www.omim.org/entry/612964", "name": "Premature ovarian failure 7", "description": "Premature ovarian failure 7" }, { "id": "MIM:608996", "resource": "MIM", "url": "https://www.omim.org/entry/608996", "name": "Premature ovarian failure 3", "description": "Premature ovarian failure 3" }, { "id": "MIM:612310", "resource": "MIM", "url": "https://www.omim.org/entry/612310", "name": "Premature ovarian failure 6", "description": "Premature ovarian failure 6" } ], "evidence": [ { "id": "615724", "database": "MIM", "url": "https://www.omim.org/entry/615724" } ] } ], "snv": [ { "evidence": [ { "id": "A2PYH4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1002, "end_pos": 1002, "subjects_tested": "558", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (5). In dbSNP: rs148381777.", "chr_id": "1", "chr_pos": "91781507", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "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." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2PYH4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4" } ], "glycoeffect": [], "start_pos": 1036, "end_pos": 1036, "subjects_tested": "93", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "1", "chr_pos": "91781406", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1; OVCAS1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "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." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, NOS", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2PYH4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1047, "end_pos": 1047, "subjects_tested": "191", "subjects_positive": "1", "frequency": "0.5", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs754765102.", "chr_id": "1", "chr_pos": "91781372", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": 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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." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2PYH4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4" } ], "glycoeffect": [], "start_pos": 1063, "end_pos": 1063, "subjects_tested": "103", "subjects_positive": "1", "frequency": "1.0", "sequence_org": "V", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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In dbSNP: rs775049733.", "chr_id": "1", "chr_pos": "91788663", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "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." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2PYH4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4" } ], "glycoeffect": [], "start_pos": 94, "end_pos": 94, "subjects_tested": "50", "subjects_positive": "1", "frequency": "2.0", "sequence_org": "F", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "chr_id": "1", "chr_pos": "91859864", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A2PYH4", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4" } ], "glycoeffect": [], "start_pos": 980, "end_pos": 980, "subjects_tested": "558", "subjects_positive": "3", "frequency": "0.5", "sequence_org": "E", "sequence_mut": "*", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "91781702", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": 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"http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor 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"" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder 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"sequence_org": "Y", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. 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"ENSG00000162669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669" } ] }, { "tissue": { "name": "Thyroid gland", "uberon": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "70.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669" } ] }, { "tissue": { "name": "Liver", "uberon": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "44.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000162669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669" } ] }, { "tissue": { "name": "Prostate gland", "uberon": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "65.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669" } ] }, { "tissue": { "name": "Breast", "uberon": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "61.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000162669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13; HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": 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"id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7; HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1; HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11; HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14; HPC14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15; HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1; HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2; HPCX2", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10; HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", 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"DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", 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"description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "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." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1; LNCR1", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4; LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3; LNCR3", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5; LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid gland cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Escc, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophagus cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca middle third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus tumor", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of distal third of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the middle third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophagus neoplasm", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Ca lower third oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal squamous cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant tumor of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "Aerodigestive tract cancer, susceptibility to", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "malignant esophageal neoplasm", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2PYH4" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "familial colorectal cancer", "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." }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "hereditary colorectal cancer", "description": "" }, { "id": "MONDO:0023113", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023113", "name": "colorectal cancer, familial", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "common_name": "Human" } ], "gene": [ { "name": "HFM1", "url": "https://www.uniprot.org/uniprot/A2PYH4", "locus": { "chromosome": "1", "start_pos": 91404869, "end_pos": 91260766, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000162669", "url": "https://www.ensembl.org/id/ENSG00000162669" } ] } } ], "crossref": [ { "id": "ENSG00000162669", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000162669", "database": "Bgee" }, { "id": "A2PYH4", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2PYH4", "database": "BioMuta" }, { "id": "HFM1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HFM1", "database": "GeneCards" }, { "id": "164045", "url": "https://www.ncbi.nlm.nih.gov/gene/164045", "database": "GeneID" }, { "id": "20193", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=20193", "database": "HGNC" }, { "id": "IPR001650", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001650", "database": "InterPro" }, { "id": "IPR004179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004179", "database": "InterPro" }, { "id": "IPR011545", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011545", "database": "InterPro" }, { "id": "IPR014001", "url": "https://www.ebi.ac.uk/interpro/entry/IPR014001", "database": "InterPro" }, { "id": "IPR027417", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "database": "InterPro" }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro" }, { "id": "IPR036390", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036390", "database": "InterPro" }, { "id": "hsa:164045", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164045", "database": "KEGG Pathway" }, { "id": "615684", "url": "http://www.omim.org/entry/615684", "database": "MIM" }, { "id": "615724", "url": "http://www.omim.org/entry/615724", "database": "MIM" }, { "id": "NX_A2PYH4", "url": "https://www.nextprot.org/entry/NX_A2PYH4", "database": "neXtProt" }, { "id": "ASVIQMY", "url": "https://omabrowser.org/oma/group/ASVIQMY/", "database": "OMA" }, { "id": "154891at2759", "url": "http://www.orthodb.org/?query=154891at2759", "database": "OrthoDB" }, { "id": "PF00270", "url": "http://pfam.xfam.org/family/PF00270", "database": "Pfam" }, { "id": "PF00271", "url": "http://pfam.xfam.org/family/PF00271", "database": "Pfam" }, { "id": "PF02889", "url": "http://pfam.xfam.org/family/PF02889", "database": "Pfam" }, { "id": "A2PYH4", "url": "https://pharos.nih.gov/targets/A2PYH4", "database": "PHAROS" }, { "id": "PR_A2PYH4", "url": "http://purl.obolibrary.org/obo/PR_A2PYH4", "database": "PRO" }, { "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975", "database": "RefSeq" }, { "id": "13065", "url": "https://www.rhea-db.org/rhea/13065", "database": "Rhea" }, { "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4", "database": "UniProtKB" }, { "id": "A2PYH4-1", "url": "https://www.uniprot.org/uniprot/A2PYH4-1", "database": "UniProtKB" }, { "id": "A2PYH4-2", "url": "https://www.uniprot.org/uniprot/A2PYH4-2", "database": "UniProtKB" }, { "id": "C9JA44", "url": "https://www.uniprot.org/uniprot/C9JA44", "database": "UniProtKB" }, { "id": "C9JA44-1", "url": "https://www.uniprot.org/uniprot/C9JA44-1", "database": "UniProtKB" }, { "id": "C9JQ07", "url": "https://www.uniprot.org/uniprot/C9JQ07", "database": "UniProtKB" }, { "id": "C9JQ07-1", "url": "https://www.uniprot.org/uniprot/C9JQ07-1", "database": "UniProtKB" }, { "id": "C9JQP7", "url": "https://www.uniprot.org/uniprot/C9JQP7", "database": "UniProtKB" }, { "id": "C9JQP7-1", "url": "https://www.uniprot.org/uniprot/C9JQP7-1", "database": "UniProtKB" }, { "id": "H0Y3X7", "url": "https://www.uniprot.org/uniprot/H0Y3X7", "database": "UniProtKB" }, { "id": "H0Y3X7-1", "url": "https://www.uniprot.org/uniprot/H0Y3X7-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF", "length": 1435, "header": "sp|A2PYH4-1|HFM1_HUMAN Isoform 1 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1" }, "isoforms": [ { "isoform_ac": "A2PYH4-1", "url": "https://www.uniprot.org/uniprot/A2PYH4#A2PYH4-1", "sequence": { "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNIKIVYMAPIKALCSQRFDDWKEKFGPIGLNCKELTGDTVMDDLFEIQHAHIIMTTPEKWDSMTRKWRDNSLVQLVRLFLIDEVHIVKDENRGPTLEVVVSRMKTVQSVSQTLKNTSTAIPMRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSNQTEFKFDLTLNYKIASVIQMYSDQKPTLVFCATRKGVQQAASVLVKDAKFIMTVEQKQRLQKYAYSVRDSKLRDILKDGAAYHHAGMELSDRKVVEGAFTVGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYAGGLFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTRDKYIQMLACRDTVESSLHRHLIEHLNAEIVLHTITDVNIAVEWIRSTLLYIRALKNPSHYGFASGLNKDGIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFSMYHPDDEADEMKSLLGIFDGIF", "length": 1435, "header": "sp|A2PYH4-1|HFM1_HUMAN Isoform 1 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1" }, "locus": { "chromosome": "1", "start_pos": 91401082, "end_pos": 91261293, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370425", "url": "https://www.ensembl.org/id/ENST00000370425" }, { "database": "Ensembl Peptide", "id": "ENSP00000359454", "url": "https://www.ensembl.org/id/ENSP00000359454" } ] } }, { "isoform_ac": "A2PYH4-2", "url": "https://www.uniprot.org/uniprot/A2PYH4#A2PYH4-2", "sequence": { "sequence": "MDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRWLSDFVAAQEKKFAVLLNSLILAKCFRCKLWENSLHVSKQLEKIGITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISVLFHHMRCRIFLYQILLCPSSVHPP", "length": 551, "header": "sp|A2PYH4-2|HFM1_HUMAN Isoform 2 of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=2 CANONICAL=A2PYH4-1" }, "locus": {} }, { "isoform_ac": "C9JA44-1", "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JA44-1", "sequence": { "sequence": "MLKSNDCLFSLENLFFEKPDEVEKLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKAPSFSVAFQPHDIQEVTENGLGSLKAVTEIPAKFRSIFKEFPYFNYIQSKAFDDL", "length": 151, "header": "tr|C9JA44-1|C9JA44_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=4 SV=1 CANONICAL=A2PYH4-1" }, "locus": { "chromosome": "1", "start_pos": 91401082, "end_pos": 91380234, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448819", "url": "https://www.ensembl.org/id/ENST00000448819" }, { "database": "Ensembl Peptide", "id": "ENSP00000397369", "url": "https://www.ensembl.org/id/ENSP00000397369" } ] } }, { "isoform_ac": "C9JQ07-1", "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JQ07-1", "sequence": { "sequence": "MIACFLWKICFLKNQMKLKSQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAPEKSVPDDTKLVNFAEDKGESTSVFRKRLFKISDNIHGSAYSNDNELDSHIGSVKIVQTEMNKGKSRNYSNSKQKFQYSANVFTANNAFSASEIGEGMFKA", "length": 196, "header": "tr|C9JQ07-1|C9JQ07_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=4 SV=1 CANONICAL=A2PYH4-1" }, "locus": { "chromosome": "1", "start_pos": 91401069, "end_pos": 91385615, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000427444", "url": "https://www.ensembl.org/id/ENST00000427444" }, { "database": "Ensembl Peptide", "id": "ENSP00000388900", "url": "https://www.ensembl.org/id/ENSP00000388900" } ] } }, { "isoform_ac": "C9JQP7-1", "url": "https://www.uniprot.org/uniprot/A2PYH4#C9JQP7-1", "sequence": { "sequence": "MLKSNDCLFSLENLFFEKPDEVENHPDNEKSLDWFLPPAPLISEIPDTQELEEELESHKLLGQEKRPKMLTSNLKITNEDTNYISLTQKFQFAFPSDKYEQDDLNLEGVGNNDLSHIAGKLTYASQKYKNHIGTEIAP", "length": 138, "header": "tr|C9JQP7-1|C9JQP7_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=4 SV=1 CANONICAL=A2PYH4-1" }, "locus": { "chromosome": "1", "start_pos": 91401082, "end_pos": 91394173, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000455133", "url": "https://www.ensembl.org/id/ENST00000455133" }, { "database": "Ensembl Peptide", "id": "ENSP00000409827", "url": "https://www.ensembl.org/id/ENSP00000409827" } ] } }, { "isoform_ac": "H0Y3X7-1", "url": "https://www.uniprot.org/uniprot/A2PYH4#H0Y3X7-1", "sequence": { "sequence": "XIEAKLQELCLKNLNDLSSLDLIKMDEGVNFKPTEAGRLMAWYYITFETVKKFYTISGKETLSDLVTLIAGCKEFLDIQLRINEKKTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTAKIFRHGSRITRCITLSNAIVNAGLTSFKKIEETDARELELILNRHPPFGTQIKETVMYLPKYELKVEQITRYSDTTAEILVTVILRNFEQLQTKRTASDSHYVTLIIGDADNQVVYLHKITDSVLLKAGSWAKKIAVKRALKSEDLSINLISSEFVGLDIQQKLTVFYLEPKRFGNQITMQRKSETQISHSKHSDISTIAGPNKGTTASKKPGNRECNHLCKSKHTCGHDCCKIGVAQKSEIKESTISSYLSDLRNRNAVSSVPPVKRLKIQMNKSQSVDLKEFGFTPKPSLPSISRSEYLNISELPIMEQWDQPEIYGKVRQEPSEYQDKEVLNVNFELGNEVWDDFDDENLEVTSFSTDTEKTKISGFGNTLSSSTRGSKLPLQESKSKFQREMSNSFVSSHEMSDISLSNSAMPKFSASSMTKLPQQAGNAVIVHFQERKPQNLSPEIEKQCFTFSEKNPNSSNYKKVDFFIRNSECKKEVDFR", "length": 625, "header": "tr|H0Y3X7-1|H0Y3X7_HUMAN Computationally mapped isoform of Probable ATP-dependent DNA helicase HFM1 OS=Homo sapiens OX=9606 GN=HFM1 PE=1 SV=1 CANONICAL=A2PYH4-1" }, "locus": { "chromosome": "1", "start_pos": 91347449, "end_pos": 91262239, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430465", "url": "https://www.ensembl.org/id/ENST00000430465" }, { "database": "Ensembl Peptide", "id": "ENSP00000387661", "url": "https://www.ensembl.org/id/ENSP00000387661" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "HFM1, the human homologue of yeast Mer3, encodes a putative DNA helicase expressed specifically in germ-line cells.", "journal": "DNA Seq.", "date": "2006", "authors": "Tanaka K., Miyamoto N., Ikeda J.E., Shouguchi-Miyata J.", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" }, { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ], "reference": [ { "type": "PubMed", "id": "17286053", "url": "https://glygen.org/publication/PubMed/17286053" } ] }, { "title": "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.", "journal": "Mutation research", "date": "2010", "authors": "Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanche H, Schreiber S, Nebel A", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ], "reference": [ { "type": "PubMed", "id": "20800603", "url": "https://glygen.org/publication/PubMed/20800603" } ] }, { "title": "Mutations in HFM1 in recessive primary ovarian insufficiency.", "journal": "N. Engl. J. Med.", "date": "2014", "authors": "Jiang H., Lin C., Shao H., Shen Y., Wang J., Wang J.', Wu J., Yu L., Zhang M., Zhang W., An Y., Zhou W., Wu B., Shen X., Song X., Wu B.L., Zhang W.', Grimmett L., Jiang H.', Jiang H.'', Liao E., Platt O., Pu D., Shen Y.', Wu B.L.', Wu B.L.'', Wu B.L.''', Zhang W.'', Zhang W.'''", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" }, { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ], "reference": [ { "type": "PubMed", "id": "24597873", "url": "https://glygen.org/publication/PubMed/24597873" } ] }, { "title": "Association analysis between HFM1 variation and primary ovarian insufficiency in Chinese women.", "journal": "Clinical genetics", "date": "2016", "authors": "Pu D, Wang C, Cao J, Shen Y, Jiang H, Liu J, Wu BL, Zhang W, Wu J", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ], "reference": [ { "type": "PubMed", "id": "26679638", "url": "https://glygen.org/publication/PubMed/26679638" } ] }, { "title": "A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.", "journal": "Journal of ovarian research", "date": "2019", "authors": "Zhe J, Chen S, Chen X, Liu Y, Li Y, Zhou X, Zhang J", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ], "reference": [ { "type": "PubMed", "id": "31279343", "url": "https://glygen.org/publication/PubMed/31279343" } ] }, { "title": "Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia.", "journal": "Reproductive biology and endocrinology : RB&E", "date": "2021", "authors": "Tang D, Lv M, Gao Y, Cheng H, Li K, Xu C, Geng H, Li G, Shen Q, Wang C, He X, Cao Y", "evidence": [ { "database": "RefSeq", "id": "NP_001017975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017975" } ], "reference": [ { "type": "PubMed", "id": "34429122", "url": "https://glygen.org/publication/PubMed/34429122" } ] } ], "pathway": [ { "id": "hsa:164045", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:164045", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z4R1-1", "protein_name": "Probable ATP-dependent DNA helicase HFM1", "gene_name": "Hfm1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPKSDDCFFSMDNLFFSSPDETENFPVKEKSLDWFLPPAPLISEIPDIQELEEEIESYKLLGKGKMPRMLTSNLKIINEDTNCISPTQKIHFSYNVHEQDYLNLGGSNNNDMSHVAGKLMYGSSQKYKNHMGAKSPSARSSPGDTKLHDVAEDRQGTSAFKKRLSRTCDSEHDCDYADGSLNLSSHISPVKLTQTKISKENAWTCSNSKQKRQYSTNKFKANDAFSASGIGKDIFKAPSFPAASQPHDIQGITPNGLGSLKAVTEIPAKFRNIFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEVPLPWLNMKIVYMAPIKALCSQRFDDWKEKFGPVGLNCKELTGDTVMDDLFEIQHANIIITTPEKWDSVTRKWRDNSFIQLVRLFLIDEVHVIKDENRGPTLEVVVSRMKTVQSLSRDLESASPVPVRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPCSSSQTEFKFDLALNYKVYSVIRTYSDQKPTLVFCSTRKGVQQAASVLVKDAKFIISVEQKLRLQKSAYSIRDSKLKDTLVYGVGYHHAGMELSDRKLVEGLFTSGDLPVLFTTSTLAMGMNMPAHLVVIKSTMHYSGGVFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTREKYVQMLACNDTVESSLHRHLIEHLNAEIVLHTITDVNIALDWIRSTMLYIRALKNPSHYGFSSGLNKDGIEAKLQELCLKNLKDLSSLDLIKMDEDVNFKPTEAGRLMAWYYITFETVKKFCAISGKETLLDLISMISSCNEFLDVQLRISEKRILNTLNKDPNRITIRFPMAERIKTREMKVNCLIQAQLGCIPIQDFALTQDTVKIFRNGSRIARWLSDFVAAQEKKFAVLLNSVILTKCFKCKLWENSKHVSKQLDKIGISLSNTMVNAGLTSFKKIEEANARELELILNRHPPFGTQIKEAVAHLPKYELEVEQIARYSDIKAEILVTIILRNFEQLQTKRTAPDFHYATLIIGDADNQVVFKHKIMDSVLLKSGNWVKKIDVKRALISEDLSINLISSDYVGLDIHQKFTVFYFGPRKFVNETAMERSSETDISHSDYSGRATATGSSKGMATCKKPGNRECHHHCKNKHACGHDCCKIGVAQKPEVKESAMSSYLSDLKSRDAVSSLPLAKRLKIQMNKSQNVDLKEFGFTPRPSLSSISRSEYLNTPELSILEQRNQHEIYGKVQQGPSEYRDKEVLGVNLELGNEVWDDFDDESLIEVMSLSADAEKMAASGFGDTRDSSLGGSKLPFQKSSSRFQRDNSNSFASSPGKPDAYLRDCSRSSFGLSSVAEIPQRAENASLANLQERRPLTLSPVIERMCFAHSKKTPQSPKFKEVDIFIGNSGSKKEIDLSKYYPDDAAEEMKALLGIFNGIF", "length": 1434 }, "evidence": [ { "id": "87103", "url": "http://www.informatics.jax.org/homology/87103", "database": "MGI" }, { "id": "A2PYH4", "url": "https://omabrowser.org/oma/group/A2PYH4/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "F1LWY1-1", "protein_name": "Helicase for meiosis 1", "gene_name": "Hfm1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLESNDCILSMDSLFFSSPGETESFPVEEKSLDWFLPPAPLISEIPDIQELEEEIENYKLLGERKMPNILTSNLKIINEDTNCISPTQKFHFPYNIHEQDYLNLGGLNNNDMSHTAGKLVYGSSQKYKNHMGDESPPTKSGPGDAKLHTAAEDREGTSALKTRLSRTCGSVQECDYANGNLSLNSHISPARLTQTKVSKEKPWNCSNRKQKLQYSTDKSKANDAFSASGIEKDIFEAPSFSAASQPRDIQGITSNGLGSLKAVTEIPAKFRSVFKEFPYFNYIQSKAFDDLLYTDRNFVICAPTGSGKTVVFELAITRLLMEAPLPWLNMKVVYMAPIKALCSQRFDDWKEKFGPIGLTCKELTGDTVMDDLFEIQHANIIMTTPEKWDSMTRKWRDNSFIQLVRLFLIDEVHVIKDENRGPTLEVVVSRMKTVQSLSKTLENASPAPVRFVAVSATIPNAEDIAEWLSDGERPAVCLKMDESHRPVKLQKVVLGFPSSSNQTEFKFDLALNYKVYSVIRTYSDQKPTLVFCATRKGVQQAASVLVKDAKFIITVEQKLRLQKSAYSIRDSKLKDTLVYGVGYHHAGMELSDRKLVEELFTSGDLPVLFTTSTLAMGVNLPAHLVVIKSTMHYTGGAFEEYSETDILQMIGRAGRPQFDTTATAVIMTRLSTREKYVQMLACNDTVESSLHRHLIEHLNAEIVLHTITDVSIALDWIRSTLLYIRALKNPSHYGFISGLNKDGIEAKLQELCLKNLKDLSSLDLIKMDEDLNFRSTEAGRLMAWYYITFETVKKFCAISGKETLSDLISMISSCSEFLDVQLRISEKRTLNTLNKDPNRITIRFPMEGRIKTREMKVNCLIQAQLGCIPIQDFALTQDTSKIFRNGSRIAKWLSDFVTAQEQKFAVLLNSVILAKCFKCKLWENSQHVSKQLDKIGISLSNTMVNAGLTSFKKIEEANARELELILNRHPPFGTQIKEAVMYLPKYELEAEQIARYSDTKAEILVTIILRNFEQLQTKRTAPDFHYATLIIGDADNQVVCKHKIMDSVLLKSGNWVKKIDVKRALISEDLSINLISSDYVGLDIHQKFTVFYLGPRKFVNQTVTERSSGTGLSHSECSDRATAAGSSKRTATCRNPGNRECHHHCKNKHICGHDCCKIGVAQKPEAKVSAVSSYLSDLKSRDAVSSFPPAKRLKIQMNKSQNVDLKEFGFVPRPSLSSIARSEYLNIHKLPILEQRTQHEIYGEVEEGASECRDEDGPHVNSELGDEVWDDFDDESLIEVMSFSADAEEMAVSGFGDTRDSSLGRSKLHFGRSSSRFQRDISNSFVSSPEKPDVCLSDCSVSNFGLSSVAEFPQQAGNASLVNLQERKQLTLSPVIERMCFTHSEKIPQSPSFKEVDIFIGNSDSKKEIDLSKYYPDDAAEEMKALLGIFNGIF", "length": 1434 }, "evidence": [ { "id": "87103", "url": "http://www.informatics.jax.org/homology/87103", "database": "MGI" }, { "id": "A2PYH4", "url": "https://omabrowser.org/oma/group/A2PYH4/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "resolution of meiotic recombination intermediates", "id": "GO:0000712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000712", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "pmid": "21873635" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "pmid": "21873635" }, { "name": "ATP hydrolysis activity", "id": "GO:0140603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140603", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2PYH4", "url": "https://www.uniprot.org/uniprot/A2PYH4" } ], "pmid": "21873635" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1200, "end_pos": 1202, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1228, "end_pos": 1230, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1372, "end_pos": 1374, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1390, "end_pos": 1392, "annotation": "n_glycosylation_sequon" }, { "start_pos": 205, "end_pos": 207, "annotation": "n_glycosylation_sequon" }, { "start_pos": 444, "end_pos": 446, "annotation": "n_glycosylation_sequon" }, { "start_pos": 503, "end_pos": 505, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "13065", "name": "", "equation": "ATP + H2O = ADP + H(+) + phosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08289-1", "F1MAM8-1", "A0A0G2K719-1", "Q5RKI1-1", "A0A0G2JY07-1", "D4A9D6-1", "A0A0G2KA92-1", "D4A321-1", "D3ZIV8-1", "D3ZAP7-1", "D3ZHY6-1", "Q6MG13-1", "Q5BJS0-1", "Q9QUL6-1", "D3ZHW0-1", 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"evidence": [ { "id": "D3ZG52", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZG52" } ] } ] }, { "uniprot_ac": "D3ZHW0", "gene_name": "Dhx29", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "D3ZHW0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZHW0" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "D3ZHW0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZHW0" } ] } ] }, { "uniprot_ac": "D3ZHY6", "gene_name": "Ddx54", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "D3ZHY6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZHY6" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "D3ZHY6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/D3ZHY6" } ] } ] }, { "uniprot_ac": "D3ZIV8", "gene_name": "Ythdc2", "activity": [ { 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] }, { "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P16261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16261" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "P16261", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16261" } ] } ] }, { "uniprot_ac": "P16381", "gene_name": "D1Pas1", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P16381", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16381" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "P16381", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P16381" } ] } ] }, { "uniprot_ac": "P17844", "gene_name": "DDX5", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P17844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17844" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "P17844", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P17844" } ] } ] }, { "uniprot_ac": "P18074", "gene_name": "ERCC2", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P18074", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18074" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "P18074", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18074" } ] } ] }, { "uniprot_ac": "P19109", "gene_name": "Rm62", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P19109", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19109" } ] }, { "ec_number": "3.6.4.13", "activity": "", "evidence": [ { "id": "P19109", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19109" } ] } ] }, { "uniprot_ac": "P19447", "gene_name": "ERCC3", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P19447", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19447" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "P19447", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P19447" } ] } ] }, { "uniprot_ac": "P20029", "gene_name": "Hspa5", "activity": [ { "ec_number": "3.6.4.10", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P20029", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20029" } ] }, { "ec_number": "3.6.4.10", "activity": "", "evidence": [ { "id": "P20029", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P20029" } ] } ] }, { "uniprot_ac": "P23128", "gene_name": "me31B", "activity": [ { "ec_number": "3.6.4.13", "activity": "ATP + H(2)O = ADP + phosphate.", "evidence": [ { "id": "P23128", "database": "UniProtKB", "url": 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