{ "uniprot_canonical_ac": "P50297-1", "uniprot_ac": "P50297", "uniprot_id": "ARY1_RAT", "mass": { "chemical_mass": 33437.0, "monoisotopic_mass": 33437.0 }, "refseq": { "ac": "NP_001032392", "name": "arylamine N-acetyltransferase 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392" }, "gene_names": [ { "name": "Nat1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P50297", "id": "P50297" }, { "name": "Nat2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P50297", "id": "P50297" }, { "name": "Aac1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P50297", "id": "P50297" }, { "name": "Nat1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392", "id": "NP_001032392" }, { "name": "Nat1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P50297", "id": "P50297" }, { "name": "Nat", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392", "id": "NP_001032392" } ], "protein_names": [ { "name": "Arylamine N-acetyltransferase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P50297" }, { "name": "2.3.1.5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P50297" }, { "name": "AT-1; NAT-1; arylamide acetylase 1; N-acetyltransferase type 1; N-acetyltransferase 1 (arylamine N-acetyltransferase); N-acetyltransferase (arylamine N-acetyltransferase)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392", "id": "NP_001032392" }, { "name": "AT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P50297" }, { "name": "Arylamide acetylase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P50297" }, { "name": "N-acetyltransferase type 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P50297" }, { "name": "NAT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P50297" }, { "name": "arylamine N-acetyltransferase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392", "id": "NP_001032392" }, { "name": "arylamine N-acetyltransferase 2 isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006253069", "id": "XP_006253069" } ], "function": [ { "annotation": "A higher level of melatonin was demonstrated in cultured ApoE4-C6 cells than in ApoE3-C6 cells. NAT was up-regulated in ApoE4-C6 cells compared with ApoE3-C6 cells, and MAOA and MAOB expression decreased in ApoE4-C6 cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001032392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392" }, { "database": "PubMed", "id": "22225631", "url": "https://glygen.org/publication/PubMed/22225631" } ] }, { "annotation": "Participates in the detoxification of a plethora of hydrazine and arylamine drugs. Acetylates both arylamines and arylalkylamines.", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297#function" }, { "database": "PubMed", "id": "8761433", "url": "https://glygen.org/publication/PubMed/8761433" }, { "database": "PubMed", "id": "7882993", "url": "https://glygen.org/publication/PubMed/7882993" } ] }, { "annotation": "Results demonstrate differential tissue-specific and developmental regulation of the rat Nat1 and Nat2 genes.", "evidence": [ { "database": "RefSeq", "id": "NP_001032392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392" }, { "database": "PubMed", "id": "18799802", "url": "https://glygen.org/publication/PubMed/18799802" } ] } ], "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": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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, 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": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "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:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "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": "HPC12", "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, 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": "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, 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, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "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": "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", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "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": "prostate cancer, hereditary, 6", "description": "" }, { "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": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "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", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "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", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "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": "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": "prostate cancer 1", "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": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "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", "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": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "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": "prostate cancer, hereditary, X-linked 1", "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 susceptibility, X-linked", "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", "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", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "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": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "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": "malignant bladder neoplasm", "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 bladder tumour", "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 neoplasm of the 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": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "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": "malignant tumor of the bladder", "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 tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "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 urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "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": "urinary bladder malignant neoplasm", "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": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "evidence": [ { "id": "11054", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] }, { "disease_id": "DOID:1240", "recommended_name": { "id": "DOID:1240", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells." }, "synonyms": [], "evidence": [ { "id": "1240", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ] }, { "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": "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", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "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": "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: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", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "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", "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": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "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": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "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": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "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": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "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": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "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": "alveolar cell carcinoma", "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 neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:13241", "recommended_name": { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet's disease", "description": "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis." }, "synonyms": [ { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behcet syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "Behet's syndrome", "description": "" }, { "id": "DOID:13241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13241", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations." }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Adamantiades-Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Bechet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet-Adamantiades syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Morbus Behet's syndrome", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "silk road disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "triple symptom complex", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "BD", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behcet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behet's disease", "description": "" }, { "id": "MONDO:0007191", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007191", "name": "Behets disease", "description": "" } ], "evidence": [ { "id": "13241", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "14330", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ] }, { "disease_id": "DOID:1790", "recommended_name": { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs." }, "synonyms": [ { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "Diffuse malignant Mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "advanced malignant mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "asbestos-related malignant mesothelioma", "description": "" }, { "id": "DOID:1790", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1790", "name": "malignant tumor of Mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma", "description": "A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos." }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial tumor", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial tumour", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelioma (disease)", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant neoplasm of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant neoplasm of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumor of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumor of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumour of mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant tumour of the mesothelium", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "mesothelioma, malignant", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "mesothelioma, somatic", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "advanced malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "asbestos-related malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "diffuse malignant mesothelioma", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "malignant mesothelial neoplasm", "description": "" }, { "id": "MONDO:0006292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0006292", "name": "MESOM", "description": "" }, { "id": "MIM:156240", "resource": "MIM", "url": "https://www.omim.org/entry/156240", "name": "Mesothelioma, malignant", "description": "Mesothelioma, malignant" } ], "evidence": [ { "id": "1790", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:2671", "recommended_name": { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells." }, "synonyms": [ { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional carcinoma", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "transitional cell tumor", "description": "" }, { "id": "DOID:2671", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2671", "name": "urothelial cell carcinoma", "description": "" } ], "evidence": [ { "id": "2671", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "Exercise induced asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "exercise-induced asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] }, { "disease_id": "DOID:2876", "recommended_name": { "id": "DOID:2876", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells." }, "synonyms": [ { "id": "DOID:2876", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2876", "name": "Epidermoid carcinoma of the Larynx", "description": "" }, { "id": "DOID:2876", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2876", "name": "squamous cell carcinoma of larynx", "description": "" } ], "evidence": [ { "id": "2876", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ] }, { "disease_id": "DOID:2957", "recommended_name": { "id": "DOID:2957", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis." }, "synonyms": [], "evidence": [ { "id": "2957", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ] }, { "disease_id": "DOID:299", "recommended_name": { "id": "DOID:299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue." }, "synonyms": [], "evidence": [ { "id": "299", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:299" } ] }, { "disease_id": "DOID:3042", "recommended_name": { "id": "DOID:3042", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign." }, "synonyms": [], "evidence": [ { "id": "3042", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ] }, { "disease_id": "DOID:3083", "recommended_name": { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both." }, "synonyms": [ { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COLD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "COPD", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive airway disease", "description": "" }, { "id": "DOID:3083", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3083", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease", "description": "A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema." }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "COPD, chronic obstructive pulmonary disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airway disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive airways disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive lung disease", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "chronic obstructive pulmonary disease, (COPD)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "cold (chronic obstructive lung disease)", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "disease (COPD), chronic obstructive", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive lung disease, chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "obstructive pulmonary disease (COPD), chronic", "description": "" }, { "id": "MONDO:0005002", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005002", "name": "pulmonary disease (COPD), chronic obstructive", "description": "" } ], "evidence": [ { "id": "3083", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ] }, { "disease_id": "DOID:3310", "recommended_name": { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking." }, "synonyms": [ { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Atopic neurodermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "Besnier's prurigo", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "allergic dermatitis", "description": "" }, { "id": "DOID:3310", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3310", "name": "atopic eczema", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "ATOD", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "dermatitis, atopic", "description": "" }, { "id": "MONDO:0011292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011292", "name": "eczema, atopic", "description": "" } ], "evidence": [ { "id": "3310", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ] }, { "disease_id": "DOID:3908", "recommended_name": { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma." }, "synonyms": [ { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "NSCLC", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "Non-small cell lung cancer", "description": "" }, { "id": "DOID:3908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3908", "name": "non-small cell lung carcinoma", "description": "" } ], "evidence": [ { "id": "3908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ] }, { "disease_id": "DOID:418", "recommended_name": { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies." }, "synonyms": [ { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "Scleroderma syndrome", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "progressive systemic sclerosis", "description": "" }, { "id": "DOID:418", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:418", "name": "systemic sclerosis", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "scleroderma, familial progressive", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "Crest syndrome", "description": "" }, { "id": "MONDO:0008418", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008418", "name": "systemic sclerosis, susceptibility to", "description": "" } ], "evidence": [ { "id": "418", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:418" } ] }, { "disease_id": "DOID:4404", "recommended_name": { "id": "DOID:4404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4404", "name": "occupational dermatitis", "description": "" }, "synonyms": [ { "id": "DOID:4404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4404", "name": "Occupational allergic contact dermatitis", "description": "" }, { "id": "DOID:4404", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4404", "name": "Occupational eczema", "description": "" } ], "evidence": [ { "id": "4404", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4404" } ] }, { "disease_id": "DOID:4947", "recommended_name": { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells." }, "synonyms": [ { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary Cholangiocarcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "adult primary cholangiocellular carcinoma", "description": "" }, { "id": "DOID:4947", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4947", "name": "cholangiosarcoma", "description": "" } ], "evidence": [ { "id": "4947", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ] }, { "disease_id": "DOID:678", "recommended_name": { "id": "DOID:678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain." }, "synonyms": [ { "id": "DOID:678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:678", "name": "Steele-Richardson-Olszewski syndrome", "description": "" }, { "id": "DOID:678", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:678", "name": "progressive supranuclear ophthalmoplegia", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive, 1", "description": "Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia." }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "PSP", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "Richardson syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "Steele-Richardson-Olszewski disease", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "Steele-Richardson-Olszewski syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "classic PSP syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "classic progressive supranuclear palsy syndrome", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive, 1", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "supranuclear palsy, progressive, type 1", "description": "" }, { "id": "MONDO:0010997", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010997", "name": "PSNP1", "description": "" }, { "id": "MONDO:0012576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012576", "name": "supranuclear palsy, progressive, 3", "description": "" }, { "id": "MONDO:0012576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012576", "name": "PSNP3", "description": "" }, { "id": "MONDO:0012576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012576", "name": "supranuclear palsy, progressive, 3", "description": "" }, { "id": "MONDO:0012278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012278", "name": "supranuclear palsy, progressive, 2", "description": "" }, { "id": "MONDO:0012278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012278", "name": "PSNP2", "description": "" }, { "id": "MONDO:0012278", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012278", "name": "supranuclear palsy, progressive, 2", "description": "" }, { "id": "MIM:601104", "resource": "MIM", "url": "https://www.omim.org/entry/601104", "name": "Progressive supranuclear palsy 1", "description": "Progressive supranuclear palsy 1" } ], "evidence": [ { "id": "678", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:678" } ] }, { "disease_id": "DOID:783", "recommended_name": { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease." }, "synonyms": [ { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end stage renal failure", "description": "" }, { "id": "DOID:783", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:783", "name": "end-stage kidney disease", "description": "" } ], "evidence": [ { "id": "783", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:783" } ] }, { "disease_id": "DOID:850", "recommended_name": { "id": "DOID:850", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide." }, "synonyms": [], "evidence": [ { "id": "850", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:850" } ] }, { "disease_id": "DOID:8893", "recommended_name": { "id": "DOID:8893", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales." }, "synonyms": [ { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "HLA-C psoriasis", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis 1, susceptibility to", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis caused by mutation in HLA-C", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "psoriasis susceptibility 1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "PSORS1", "description": "" }, { "id": "MONDO:0008334", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008334", "name": "susceptibility to psoriasis 1", "description": "" }, { "id": "MIM:177900", "resource": "MIM", "url": "https://www.omim.org/entry/177900", "name": "Psoriasis 1", "description": "Psoriasis 1" } ], "evidence": [ { "id": "8893", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ] }, { "disease_id": "DOID:9074", "recommended_name": { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "synonyms": [ { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9074", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "SLEB5", "description": "" }, { "id": "MONDO:0012361", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012361", "name": "systemic lupus erythematosus, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "SLEB8", "description": "" }, { "id": "MONDO:0012404", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012404", "name": "systemic lupus erythematosus, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "SLEB7", "description": "" }, { "id": "MONDO:0012403", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012403", "name": "systemic lupus erythematosus, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "SLEB12", "description": "" }, { "id": "MONDO:0012836", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012836", "name": "systemic lupus erythematosus, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific." }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "SLE - lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "disseminated lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus erythematosus, systemic", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus (disease)", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "systemic lupus erythematosus, susceptibility to", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess LMW-DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "excess lymphocyte low molecular weight DNA", "description": "" }, { "id": "MONDO:0007915", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007915", "name": "lupus nephritis, susceptibility to", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "SLEB15", "description": "" }, { "id": "MONDO:0010433", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010433", "name": "systemic lupus erythematosus, susceptibility to, 15", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "SLEB4", "description": "" }, { "id": "MONDO:0012036", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012036", "name": "systemic lupus erythematosus, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "SLEB6", "description": "" }, { "id": "MONDO:0012369", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012369", "name": "systemic lupus erythematosus, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "SLEB13", "description": "" }, { "id": "MONDO:0012884", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012884", "name": "systemic lupus erythematosus, susceptibility to, 13", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "SLEB3", "description": "" }, { "id": "MONDO:0011560", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011560", "name": "systemic lupus erythematosus, susceptibility to, 3", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal systemic lupus erythematosus type 16", "description": "An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3." }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "autosomal SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial SLE", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "familial systemic lupus erythematosus", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "SLEB16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus 16", "description": "" }, { "id": "MONDO:0013743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013743", "name": "systemic lupus erythematosus type 16", "description": "" }, { "id": "MIM:152700", "resource": "MIM", "url": "https://www.omim.org/entry/152700", "name": "Systemic lupus erythematosus", "description": "Systemic lupus erythematosus" }, { "id": "MIM:609939", "resource": "MIM", "url": "https://www.omim.org/entry/609939", "name": "Systemic lupus erythematosus 6", "description": "Systemic lupus erythematosus 6" }, { "id": "MIM:614420", "resource": "MIM", "url": "https://www.omim.org/entry/614420", "name": "Systemic lupus erythematosus 16", "description": "Systemic lupus erythematosus 16" } ], "evidence": [ { "id": "9074", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ] }, { "disease_id": "DOID:9119", "recommended_name": { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells." }, "synonyms": [ { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "AML - acute Myeloid Leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "Leukemia, Myelocytic, acute", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myelogenous leukemia", "description": "" }, { "id": "DOID:9119", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9119", "name": "acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections." }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "AML - acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "ANLL", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute Nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute granulocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myelogenous leukemias", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute myeloid leukemia, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute nonlymphocytic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukaemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "hematopoeitic - acute Myleogenous leukemia (AML)", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, reduced survival in, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, myelocytic, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "myeloid leukemia, acute, M4/M4Eo subtype, somatic", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukaemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "acute non lymphoblastic leukemia", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myelogenous", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid", "description": "" }, { "id": "MONDO:0018874", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018874", "name": "leukemia, acute myeloid, susceptibility to", "description": "" }, { "id": "MIM:601626", "resource": "MIM", "url": "https://www.omim.org/entry/601626", "name": "Leukemia, acute myelogenous", "description": "Leukemia, acute myelogenous" } ], "evidence": [ { "id": "9119", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ] }, { "disease_id": "DOID:9351", "recommended_name": { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both." }, "synonyms": [ { "id": "DOID:9351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9351", "name": "diabetes", "description": "" } ], "evidence": [ { "id": "9351", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ] }, { "disease_id": "DOID:9655", "recommended_name": { "id": "DOID:9655", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking." }, "synonyms": [], "evidence": [ { "id": "9655", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ] }, { "disease_id": "DOID:9669", "recommended_name": { "id": "DOID:9669", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging." }, "synonyms": [], "evidence": [ { "id": "9669", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ] }, { "disease_id": "DOID:9952", "recommended_name": { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts." }, "synonyms": [ { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "ALL", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "precursor lymphoblastic lymphoma/leukemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphoblastic leukaemia", "description": "" }, { "id": "DOID:9952", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9952", "name": "acute lymphocytic leukaemia", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphoblastic leukemia, acute, with lymphomatous features", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lall", "description": "" }, { "id": "MONDO:0009539", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009539", "name": "lymphomatous All", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "T-cell acute lymphoblastic leukemia, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphocytic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, Philadelphia chromosome positive, somatic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphocytic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "ALL", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "All1", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, B-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, T-cell acute lymphoblastic, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to", "description": "" }, { "id": "MONDO:0013108", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013108", "name": "leukemia, acute lymphoblastic, susceptibility to, 1", "description": "" }, { "id": "MIM:613065", "resource": "MIM", "url": "https://www.omim.org/entry/613065", "name": "Leukemia, acute lymphoblastic", "description": "Leukemia, acute lymphoblastic" } ], "evidence": [ { "id": "9952", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "common_name": "Rat" } ], "gene": [ { "name": "Nat1", "url": "https://www.uniprot.org/uniprot/P50297", "locus": {} } ], "crossref": [ { "id": "ENSRNOG00000014055", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000014055", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "ENSRNOG00000049498", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000049498", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "2.3.1.56", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.3.1.56&UniProtAcc=P50297", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "116631", "url": "https://www.ncbi.nlm.nih.gov/gene/116631", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "116632", "url": "https://www.ncbi.nlm.nih.gov/gene/116632", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001447", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001447", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR038765", "url": "https://www.ebi.ac.uk/interpro/entry/IPR038765", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:116631", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:116631", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "IMYAMAQ", "url": "https://omabrowser.org/oma/group/IMYAMAQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2696539at2759", "url": "http://www.orthodb.org/?query=2696539at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11786", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11786", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11786:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11786:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11786:SF8", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11786:SF8", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00797", "url": "http://pfam.xfam.org/family/PF00797", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P50297", "url": "http://purl.obolibrary.org/obo/PR_P50297", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-156582", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-156582", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9753281", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9753281", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001032392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "70490", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=70490", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "70492", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=70492", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "16613", "url": "https://www.rhea-db.org/rhea/16613", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A8I5ZLT4", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLT4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5ZLT4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5ZLT4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V9K9", "url": "https://www.uniprot.org/uniprot/G3V9K9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3V9K9-1", "url": "https://www.uniprot.org/uniprot/G3V9K9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P50297-1", "url": "https://www.uniprot.org/uniprot/P50297-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDIEAYFERIGYKNSVNKLDLATLTEVLQHQMRAVPFENLSMHCGEAMCLGLEATFDHIVRKKRGGWCLQVNHLLYWALTKMGFETTMLGGYVYITPVNKYSSEMVHLLVQVTISDRNYIVDSAYGSSYQMWEPLELTSGKDQPQVPAIFRLTEENGTWYLDQIRREQDVPNQEFVNSDLLEKSKYRKIYSFTLEPRTIEDFEYVNTYLQTSPASVFVSTSFCSLQTSEGVCCLIGSTLTSRRFSYKDNVDLVEFKSLTEEEIEDVLKTTFGISLEKKFVPKHGELVFTI", "length": 290, "header": "sp|P50297-1|ARY1_RAT Isoform 1 of Arylamine N-acetyltransferase 1 OS=Rattus norvegicus OX=10116 GN=Nat1 PE=1 SV=1 CANONICAL=P50297-1" }, "isoforms": [ { "isoform_ac": "A0A8I5ZLT4-1", "url": "", "sequence": { "sequence": "MDIEAYFERIGYKNSVNKLDLATLTEVLQHQMRAVPFENLSMHCGEAMCLGLEATFDHIVRKKRGGWCLQVNHLLYWALTKMGFETTMLGGYVYITPVNKYSSEMVHLLVQVTISDRNYIVDSAYGSSYQMWEPLELTSGKDQPQVPAIFRLTEENGTWYLDQIRREQDVPNQEFVNSDLLEKSKYRKIYSFTLEPRTIEDFEYVNTYLQTSPASVFETMDIEAYFERIGYQSSRNKLDLEELTEILQHQIRAIPFENLNIHCGESMELNLEVIFDQVVRKKRGGWCLQVNHLLYWALTKMGFEATMLGGYVFNTPANKYSSGMIHLLVQVTLSGKDYIVDAGFGRSYQMWEPLELTSGKDQPQVPAVFRLTEENGTWYLDQIRREQYVPNQEFVNSDLLEKNKYRKIYSFTLEPRTIEDFESINTYLQTSPASLFTSKSFCSLQTLEGVHCLVGSTLTYRRFSYKDNIDLVEFKSLTEEEIEDVLKTIFGVSLERKLVPKHGDRFFTI", "length": 509, "header": "tr|A0A8I5ZLT4-1|ARY1_RAT Computationally mapped isoform of Arylamine N-acetyltransferase 1 OS=Rattus norvegicus OX=10116 GN=Nat1 PE=1 SV=1 CANONICAL=P50297-1" }, "locus": { "chromosome": "16", "start_pos": 22219841, "end_pos": 22208749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000097045.1", "url": "https://www.ensembl.org/id/ENSRNOT00000097045.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000078955.1", "url": "https://www.ensembl.org/id/ENSRNOP00000078955.1" } ] } }, { "isoform_ac": "G3V9K9-1", "url": "", "sequence": { "sequence": "MDIEAYFERIGYQSSRNKLDLEELTEILQHQIRAIPFENLNIHCGESMELNLEVIFDQVVRKKRGGWCLQVNHLLYWALTKMGFEATMLGGYVFNTPANKYSSGMIHLLVQVTLSGKDYIVDAGFGRSYQMWEPLELTSGKDQPQVPAVFRLTEENGTWYLDQIRREQYVPNQEFVNSDLLEKNKYRKIYSFTLEPRTIEDFESINTYLQTSPASLFTSKSFCSLQTLEGVHCLVGSTLTYRRFSYKDNIDLVEFKSLTEEEIEDVLKTIFGVSLERKLVPKHGDRFFTI", "length": 290, "header": "tr|G3V9K9-1|G3V9K9_RAT Computationally mapped isoform of arylamine N-acetyltransferase OS=Rattus norvegicus OX=10116 GN=Nat2 PE=3 SV=1 CANONICAL=P50297-1" }, "locus": { "chromosome": "16", "start_pos": 22209618, "end_pos": 22208749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000101421.1", "url": "https://www.ensembl.org/id/ENSRNOT00000101421.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000087047.1", "url": "https://www.ensembl.org/id/ENSRNOP00000087047.1" } ] } }, { "isoform_ac": "P50297-1", "url": "", "sequence": { "sequence": "MDIEAYFERIGYKNSVNKLDLATLTEVLQHQMRAVPFENLSMHCGEAMCLGLEATFDHIVRKKRGGWCLQVNHLLYWALTKMGFETTMLGGYVYITPVNKYSSEMVHLLVQVTISDRNYIVDSAYGSSYQMWEPLELTSGKDQPQVPAIFRLTEENGTWYLDQIRREQDVPNQEFVNSDLLEKSKYRKIYSFTLEPRTIEDFEYVNTYLQTSPASVFVSTSFCSLQTSEGVCCLIGSTLTSRRFSYKDNVDLVEFKSLTEEEIEDVLKTTFGISLEKKFVPKHGELVFTI", "length": 290, "header": "sp|P50297-1|ARY1_RAT Isoform 1 of Arylamine N-acetyltransferase 1 OS=Rattus norvegicus OX=10116 GN=Nat1 PE=1 SV=1 CANONICAL=P50297-1" }, "locus": { "chromosome": "16", "start_pos": 22219841, "end_pos": 22218972, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000090726", "url": "https://www.ensembl.org/id/ENSRNOT00000090726" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000070053", "url": "https://www.ensembl.org/id/ENSRNOP00000070053" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Quantitative tissue and gene-specific differences and developmental changes in Nat1, Nat2, and Nat3 mRNA expression in the rat.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2008", "authors": "Barker DF, Walraven JM, Ristagno EH, Doll MA, States JC, Hein DW", "evidence": [ { "database": "RefSeq", "id": "NP_001032392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392" } ], "reference": [ { "type": "PubMed", "id": "18799802", "url": "https://glygen.org/publication/PubMed/18799802" } ] }, { "title": "Apolipoprotein E influences melatonin biosynthesis by regulating NAT and MAOA expression in C6 cells.", "journal": "Journal of pineal research", "date": "2012", "authors": "Liu YJ, Meng FT, Wang LL, Zhang LF, Cheng XP, Zhou JN", "evidence": [ { "database": "RefSeq", "id": "NP_001032392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032392" } ], "reference": [ { "type": "PubMed", "id": "22225631", "url": "https://glygen.org/publication/PubMed/22225631" } ] }, { "title": "Complementary DNAs for two arylamine N-acetyltransferases with identical 5' non-coding regions from rat pineal gland.", "journal": "Eur. J. Biochem.", "date": "1995", "authors": "Sasaki Y., Deguchi T., Ebisawa T.", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "reference": [ { "type": "PubMed", "id": "7882993", "url": "https://glygen.org/publication/PubMed/7882993" } ] }, { "title": "Recombinant rat and hamster N-acetyltransferases-1 and -2: relative rates of N-acetylation of arylamines and N,O-acyltransfer with arylhydroxamic acids.", "journal": "Carcinogenesis", "date": "1996", "authors": "Jones RF, Land SJ, King CM", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "reference": [ { "type": "PubMed", "id": "8761433", "url": "https://glygen.org/publication/PubMed/8761433" } ] } ], "pathway": [ { "id": "rno:116631", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:116631", "resource": "KEGG Pathway" }, { "id": "R-RNO-156582", "name": "Acetylation", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-156582", "resource": "Reactome", "description": "Acetylation" }, { "id": "R-RNO-9753281", "name": "Paracetamol ADME", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9753281", "resource": "Reactome", "description": "Paracetamol ADME" } ], "orthologs": [ { "uniprot_canonical_ac": "P11245-1", "protein_name": "Arylamine N-acetyltransferase 2", "gene_name": "NAT2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDIEAYFERIGYKNSRNKLDLETLTDILEHQIRAVPFENLNMHCGQAMELGLEAIFDHIVRRNRGGWCLQVNQLLYWALTTIGFQTTMLGGYFYIPPVNKYSTGMVHLLLQVTIDGRNYIVDAGSGSSSQMWQPLELISGKDQPQVPCIFCLTEERGIWYLDQIRREQYITNKEFLNSHLLPKKKHQKIYLFTLEPRTIEDFESMNTYLQTSPTSSFITTSFCSLQTPEGVYCLVGFILTYRKFNYKDNTDLVEFKTLTEEEVEEVLRNIFKISLGRNLVPKPGDGSLTI", "length": 290 }, "evidence": [ { "id": "45232980", "url": "http://www.informatics.jax.org/homology/45232980", "database": "MGI" }, { "id": "45232981", "url": "http://www.informatics.jax.org/homology/45232981", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P18440-1", "protein_name": "Arylamine N-acetyltransferase 1", "gene_name": "NAT1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDIEAYLERIGYKKSRNKLDLETLTDILQHQIRAVPFENLNIHCGDAMDLGLEAIFDQVVRRNRGGWCLQVNHLLYWALTTIGFETTMLGGYVYSTPAKKYSTGMIHLLLQVTIDGRNYIVDAGFGRSYQMWQPLELISGKDQPQVPCVFRLTEENGFWYLDQIRREQYIPNEEFLHSDLLEDSKYRKIYSFTLKPRTIEDFESMNTYLQTSPSSVFTSKSFCSLQTPDGVHCLVGFTLTHRRFNYKDNTDLIEFKTLSEEEIEKVLKNIFNISLQRKLVPKHGDRFFTI", "length": 290 }, "evidence": [ { "id": "45232980", "url": "http://www.informatics.jax.org/homology/45232980", "database": "MGI" }, { "id": "45232981", "url": "http://www.informatics.jax.org/homology/45232981", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P50294-1", "protein_name": "Arylamine N-acetyltransferase 1", "gene_name": "Nat1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDIEAYFERIGYKNSVNKLDLATLTEVLQHQMRAVPFENLNMHCGEAMHLDLQDIFDHIVRKKRGGWCLQVNHLLYWALTKMGFETTMLGGYVYITPVSKYSSEMVHLLVQVTISDRKYIVDSAYGGSYQMWEPLELTSGKDQPQVPAIFLLTEENGTWYLDQIRREQYVPNEEFVNSDLLEKNKYRKIYSFTLEPRVIEDFEYVNSYLQTSPASVFVSTSFCSLQTSEGVHCLVGSTFTSRRFSYKDDVDLVEFKYVNEEEIEDVLKTAFGISLERKFVPKHGELVFTI", "length": 290 }, "evidence": [ { "id": "45232980", "url": "http://www.informatics.jax.org/homology/45232980", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P50295-1", "protein_name": "Arylamine N-acetyltransferase 2", "gene_name": "Nat2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDIEAYFERIGYQSTRSKLDLKTLTEILQHQIRAIPFENLNIHCGESMELSLEAIFDQIVRKKRGGWCLQVNHLLYWALTKLGFETTMLGGYVFNTPANKYSSGMIHLLVQVTISGKDYIVDAGFGRSYQMWEPLELTSGKDQPQVPAIFRLTEENGTWYLDQIRREQYVPNQEFINSDLLEKNKYRKIYSFTLEPRTIEDFESMNTYLQTSPASVFTSKSFCSLQTPEGVHCLVGSTLTYRRFSYKDNVDLVEFKSLTEEEIEDVLRTIFGVSLERKLVPKHGDRFFTI", "length": 290 }, "evidence": [ { "id": "45232981", "url": "http://www.informatics.jax.org/homology/45232981", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "response to thyroxine", "id": "GO:0097068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097068", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "arylamine N-acetyltransferase activity", "id": "GO:0004060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004060", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "pmid": "" }, { "name": "acetyltransferase activity", "id": "GO:0016407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016407", "evidence": [ { "database": "UniProtKB", "id": "P50297", "url": "https://www.uniprot.org/uniprot/P50297" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 156, "end_pos": 158, "annotation": "n_glycosylation_sequon" }, { "start_pos": 39, "end_pos": 41, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16613", "name": "", "equation": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50297-1", "P50298-1", "P18440-1", "P11245-1", "P50296-1", "P50294-1", "P50295-1", "Q54IU7-1", "Q54IU8-1", "Q54IU9-1" ], "evidence": [ { "id": "16613", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16613" } ] }, { "id": "R-RNO-158832", "name": "The acetyl group from acetyl-CoA is transferred to the NAT2", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50297-1", "P50298-1", "G3V9I5-1" ], "evidence": [ { "id": "R-RNO-158832", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-158832" } ] }, { "id": "R-RNO-174967", "name": "NAT2 acetylation", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P50297-1", "P50298-1", "G3V9I5-1" ], "evidence": [ { "id": "R-RNO-174967", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-174967" } ] }, { "id": "R-RNO-9753676", "name": "NAT1,2 acetylate APAP-Cys to APAP-Mer", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [ "R-ALL-9753642" ], "enzyme_list": [ "P50297-1", "P50298-1", "G3V9I5-1" ], "evidence": [ { "id": "R-RNO-9753676", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9753676" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-9753642", "participant_name": "APAP-Mer [cytosol]", "crossref": [ { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" }, { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" }, { "id": "133438", "database": "ChEBI", "url": "" }, { "id": "000002528460", "database": "ZINC", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "G3V9I5", "gene_name": "Nat3", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "G3V9I5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V9I5" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "G3V9I5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/G3V9I5" } ] } ] }, { "uniprot_ac": "P11245", "gene_name": "NAT2", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P11245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11245" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P11245", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11245" } ] } ] }, { "uniprot_ac": "P18440", "gene_name": "NAT1", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P18440", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18440" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P18440", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P18440" } ] } ] }, { "uniprot_ac": "P50294", "gene_name": "Nat1", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P50294", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50294" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P50294", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50294" } ] } ] }, { "uniprot_ac": "P50295", "gene_name": "Nat2", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P50295", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50295" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P50295", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50295" } ] } ] }, { "uniprot_ac": "P50296", "gene_name": "Nat3", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P50296", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50296" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P50296", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50296" } ] } ] }, { "uniprot_ac": "P50297", "gene_name": "Nat1", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P50297", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50297" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P50297", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50297" } ] } ] }, { "uniprot_ac": "P50298", "gene_name": "Nat2", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "P50298", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50298" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "P50298", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50298" } ] } ] }, { "uniprot_ac": "Q54IU7", "gene_name": "", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "Q54IU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54IU7" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "Q54IU7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54IU7" } ] } ] }, { "uniprot_ac": "Q54IU8", "gene_name": "", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "Q54IU8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54IU8" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "Q54IU8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54IU8" } ] } ] }, { "uniprot_ac": "Q54IU9", "gene_name": "", "activity": [ { "ec_number": "2.3.1.5", "activity": "acetyl-CoA + an arylamine = an N-acetylarylamine + CoA.", "evidence": [ { "id": "Q54IU9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54IU9" } ] }, { "ec_number": "2.3.1.5", "activity": "", "evidence": [ { "id": "Q54IU9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q54IU9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 4 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }