{ "uniprot_canonical_ac": "O70249-1", "uniprot_ac": "O70249", "uniprot_id": "OGG1_RAT", "mass": { "chemical_mass": 38711.0, "monoisotopic_mass": 38711.0 }, "refseq": { "ac": "NP_110497", "name": "N-glycosylase/DNA lyase", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" }, "gene_names": [ { "name": "Ogg1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O70249", "id": "O70249" }, { "name": "Mmh", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O70249", "id": "O70249" }, { "name": "Ogg1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497", "id": "NP_110497" }, { "name": "Ogh1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O70249", "id": "O70249" } ], "protein_names": [ { "name": "N-glycosylase/DNA lyase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O70249" }, { "name": "8-oxoguanine DNA-glycosylase 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497", "id": "NP_110497" }, { "name": "N-glycosylase/DNA lyase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497", "id": "NP_110497" } ], "function": [ { "annotation": "Chronic hypobaric hypoxia attenuates OGG1 expression in rat spermatozoa in a time-dependent fashion, with a greater reduction in the mitochondrial isoform OGG1-2a.", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" }, { "database": "PubMed", "id": "28758699", "url": "https://glygen.org/publication/PubMed/28758699" } ] }, { "annotation": "DNA repair enzyme that incises DNA at 8-oxoG residues. Excises 7,8-dihydro-8-oxoguanine and 2,6-diamino-4-hydroxy-5-N-methylformamidopyrimidine (FAPY) from damaged DNA. Has a beta-lyase activity that nicks DNA 3' to the lesion.", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249#function" } ] }, { "annotation": "Ogg1 overexpression also reduced binding of mitochondrial transcription factor A (TFAM) to both regulatory and coding regions of the mitochondrial genome without altering total abundance of TFAM in either control or hypoxic cells. These observations suggest that oxidative DNA modifications in the D-loop region during hypoxia are important for increased TFAM binding and ensuing replication of the mitochondrial genome.", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" }, { "database": "PubMed", "id": "27091693", "url": "https://glygen.org/publication/PubMed/27091693" } ] }, { "annotation": "Oxidative DNA damage occurred in lung epithelial cells during earlystage bronchopulmonary dysplasia, as confirmed by in vitro and in vivo hyperoxia exposure experiments, and the increased expression of OGG1 was associated with this process.", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" }, { "database": "PubMed", "id": "25672835", "url": "https://glygen.org/publication/PubMed/25672835" } ] }, { "annotation": "The effects of voluntary complex and regular wheel running exercises on the levels of 8-oxoguanine DNA glycosylase, semaphorin 3B, H2O2, and apoptosis in the hippocampus of diabetic rats.", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" }, { "database": "PubMed", "id": "33471970", "url": "https://glygen.org/publication/PubMed/33471970" } ] }, { "annotation": "The increase in the oxidative stress in compensated cardiac hypertrophy induced the OGG1-2a migration to mitochondria to repair mtDNA oxidation, as a mechanism that allows maintaining the cardiac function in the compensatory stage.", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" }, { "database": "PubMed", "id": "28882450", "url": "https://glygen.org/publication/PubMed/28882450" } ] } ], "disease": [ { "disease_id": "DOID:0002116", "recommended_name": { "id": "DOID:0002116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0002116", "name": "pterygium", "description": "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation." }, "synonyms": [ { "id": "DOID:0002116", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0002116", "name": "surfer's eye", "description": "" } ], "evidence": [ { "id": "0002116", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0002116" } ] }, { "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:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "obsolete glaucoma 1, open angle, E", "description": "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:12361", "recommended_name": { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland." }, "synonyms": [ { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Grave's disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "Graves disease", "description": "" }, { "id": "DOID:12361", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12361", "name": "exophthalmic goiter", "description": "" } ], "evidence": [ { "id": "12361", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ] }, { "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:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "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:1824", "recommended_name": { "id": "DOID:1824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1824", "name": "status epilepticus", "description": "" }, "synonyms": [ { "id": "DOID:1824", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1824", "name": "Grand mal status", "description": "" } ], "evidence": [ { "id": "1824", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ] }, { "disease_id": "DOID:2237", "recommended_name": { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "hepatitis", "description": "" }, "synonyms": [ { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "acute and subacute liver necrosis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "acute hepatitis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "acute/subac. necrosis of liver", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "animal hepatitis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "chronic hepatitis", "description": "" }, { "id": "DOID:2237", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2237", "name": "chronic persistent hepatitis", "description": "" } ], "evidence": [ { "id": "2237", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:2513", "recommended_name": { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells." }, "synonyms": [ { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell cancer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell carcinoma of skin", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Basal cell tumor", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Epithelioma basal cell", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "Rodent ulcer", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant Basal cell neoplasm", "description": "" }, { "id": "DOID:2513", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2513", "name": "malignant basal cell tumor", "description": "" } ], "evidence": [ { "id": "2513", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ] }, { "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:3314", "recommended_name": { "id": "DOID:3314", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3314", "name": "angiomyolipoma", "description": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells." }, "synonyms": [], "evidence": [ { "id": "3314", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3314" } ] }, { "disease_id": "DOID:3525", "recommended_name": { "id": "DOID:3525", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3525", "name": "middle cerebral artery infarction", "description": "" }, "synonyms": [], "evidence": [ { "id": "3525", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ] }, { "disease_id": "DOID:4450", "recommended_name": { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney." }, "synonyms": [ { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "RCC", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "adenocarcinoma of kidney", "description": "" }, { "id": "DOID:4450", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4450", "name": "hypernephroma", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, Xp11-associated", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "renal cell carcinoma, papillary, 1", "description": "" }, { "id": "MONDO:0010456", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010456", "name": "RCCX1", "description": "" } ], "evidence": [ { "id": "4450", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ] }, { "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:5520", "recommended_name": { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck." }, "synonyms": [ { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "DOID:5520", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5520", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands." }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "HNSCC", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "SCCHN", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "craniocervical region squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "head and neck squamous cell carcinoma", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck, somatic", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinomas of head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "carcinoma of the head and neck", "description": "" }, { "id": "MONDO:0010150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010150", "name": "squamous cell carcinoma, head and neck", "description": "" }, { "id": "MIM:275355", "resource": "MIM", "url": "https://www.omim.org/entry/275355", "name": "Squamous cell carcinoma of the head and neck", "description": "Squamous cell carcinoma of the head and neck" } ], "evidence": [ { "id": "5520", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ] }, { "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:83", "recommended_name": { "id": "DOID:83", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision." }, "synonyms": [ { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1 multiple types", "description": "Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene." }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CTRCT1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "Duffy linked cataract", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "GJA8 cataract (disease)", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract (disease) caused by mutation in GJA8", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CAE1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "CZP1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "zonular pulverulent cataract 1", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract 1, multiple types", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, Duffy-linked", "description": "" }, { "id": "MONDO:0007285", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007285", "name": "cataract, zonular pulverulent, 1", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "early-onset non-syndromic cataract", "description": "Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected." }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "cataract, age-related nuclear", "description": "" }, { "id": "MONDO:0011060", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011060", "name": "nuclear sclerosis of the lens", "description": "" }, { "id": "MIM:116200", "resource": "MIM", "url": "https://www.omim.org/entry/116200", "name": "Cataract 1, multiple types", "description": "Cataract 1, multiple types" } ], "evidence": [ { "id": "83", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:83" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": 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{ "id": "IPR004577", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004577", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011257", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011257", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012904", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012904", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR023170", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023170", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:81528", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:81528", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "GYAQQYL", "url": "https://omabrowser.org/oma/group/GYAQQYL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "118473at2759", "url": "http://www.orthodb.org/?query=118473at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10242", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10242", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10242:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10242:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00730", "url": "http://pfam.xfam.org/family/PF00730", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07934", "url": "http://pfam.xfam.org/family/PF07934", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_O70249", "url": "http://purl.obolibrary.org/obo/PR_O70249", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-110329", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-110329", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-110330", "url": 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}, { "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O70249-1", "url": "https://www.uniprot.org/uniprot/O70249-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLFSSSLSSSMRHRTLTSSPALWASIPCPRSELRLDLVLASGQSFRWREQSPAHWSGVLADQVWTLTQTEDQLYCTVYRGDKGQVGRPTLEELETLHKYFQLDVSLTQLYSHWASVDSHFQSVAQKFQGVRLLRQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLVQLDDVTYHGFPNLHALAGPEVETHLRKLGLGYRARYVCASAKAILEEQGGPAWLQQLRVASYEEAHKALCTLPGVGTKVADCICLMALDKPQAVPVDIHVWQIAHRDYGWQPKTSQTKGPSPLANKELGNFFRNLWGPYAGWAQAVLFSADLRQQNLSREPPAKRKKGSKKTEG", "length": 345, "header": "sp|O70249-1|OGG1_RAT Isoform 1 of N-glycosylase/DNA lyase OS=Rattus norvegicus OX=10116 GN=Ogg1 PE=2 SV=1 CANONICAL=O70249-1" }, "isoforms": [ { "isoform_ac": "O70249-1", "url": "", "sequence": { "sequence": "MLFSSSLSSSMRHRTLTSSPALWASIPCPRSELRLDLVLASGQSFRWREQSPAHWSGVLADQVWTLTQTEDQLYCTVYRGDKGQVGRPTLEELETLHKYFQLDVSLTQLYSHWASVDSHFQSVAQKFQGVRLLRQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLVQLDDVTYHGFPNLHALAGPEVETHLRKLGLGYRARYVCASAKAILEEQGGPAWLQQLRVASYEEAHKALCTLPGVGTKVADCICLMALDKPQAVPVDIHVWQIAHRDYGWQPKTSQTKGPSPLANKELGNFFRNLWGPYAGWAQAVLFSADLRQQNLSREPPAKRKKGSKKTEG", "length": 345, "header": "sp|O70249-1|OGG1_RAT Isoform 1 of N-glycosylase/DNA lyase OS=Rattus norvegicus OX=10116 GN=Ogg1 PE=2 SV=1 CANONICAL=O70249-1" }, "locus": { "chromosome": "4", "start_pos": 146481021, "end_pos": 146474969, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000085766", "url": "https://www.ensembl.org/id/ENSRNOT00000085766" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000070483", "url": "https://www.ensembl.org/id/ENSRNOP00000070483" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Association between oxidative DNA damage and the expression of 8-oxoguanine DNA glycosylase 1 in lung epithelial cells of neonatal rats exposed to hyperoxia.", "journal": "Molecular medicine reports", "date": "2015", "authors": "Jin L, Yang H, Fu J, Xue X, Yao L, Qiao L", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" } ], "reference": [ { "type": "PubMed", "id": "25672835", "url": "https://glygen.org/publication/PubMed/25672835" } ] }, { "title": "Regulation of mitochondrial genome replication by hypoxia: The role of DNA oxidation in D-loop region.", "journal": "Free radical biology & medicine", "date": "2016", "authors": "Pastukh VM, Gorodnya OM, Gillespie MN, Ruchko MV", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" } ], "reference": [ { "type": "PubMed", "id": "27091693", "url": "https://glygen.org/publication/PubMed/27091693" } ] }, { "title": "Chronic hypobaric hypoxia diminishes the expression of base excision repair OGG1 enzymes in spermatozoa.", "journal": "Andrologia", "date": "2018", "authors": "Farias JG, Zepeda A, Castillo R, Figueroa E, Ademoyero OT, Pulgar VM", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" } ], "reference": [ { "type": "PubMed", "id": "28758699", "url": "https://glygen.org/publication/PubMed/28758699" } ] }, { "title": "The 8-oxo-deoxyguanosine glycosylase increases its migration to mitochondria in compensated cardiac hypertrophy.", "journal": "Journal of the American Society of Hypertension : JASH", "date": "2017", "authors": "Vela-Guajardo JE, Perez-Trevino P, Rivera-Alvarez I, Gonzalez-Mondellini FA, Altamirano J, Garcia N", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" } ], "reference": [ { "type": "PubMed", "id": "28882450", "url": "https://glygen.org/publication/PubMed/28882450" } ] }, { "title": "The effects of voluntary complex and regular wheel running exercises on the levels of 8-oxoguanine DNA glycosylase, semaphorin 3B, H2O2, and apoptosis in the hippocampus of diabetic rats.", "journal": "Brain and behavior", "date": "2021", "authors": "Fazelzadeh M, Afzalpour ME, Fallah Mohammadi Z, Falah Mohammadi H", "evidence": [ { "database": "RefSeq", "id": "NP_110497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110497" } ], "reference": [ { "type": "PubMed", "id": "33471970", "url": "https://glygen.org/publication/PubMed/33471970" } ] }, { "title": "Rat 7,8-dihydro-8-oxoguanine DNA glycosylase: substrate specificity, kinetics and cleavagemechanism at an apurinic site.", "journal": "Nucleic Acids Res.", "date": "1998", "authors": "Jurado J., Francastel E., Laval F., Prieto Alamo M.J.", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "reference": [ { "type": "PubMed", "id": "9801319", "url": "https://glygen.org/publication/PubMed/9801319" } ] } ], "pathway": [ { "id": "rno:81528", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:81528", "resource": "KEGG Pathway" }, { "id": "R-RNO-110329", "name": "Cleavage of the damaged pyrimidine", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-110329", "resource": "Reactome", "description": "Cleavage of the damaged pyrimidine" }, { "id": "R-RNO-110330", "name": "Recognition and association of DNA glycosylase with site containing an affected purine", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-110330", "resource": "Reactome", "description": "Recognition and association of DNA glycosylase with site containing an affected purine" }, { "id": "R-RNO-110331", "name": "Cleavage of the damaged purine", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-110331", "resource": "Reactome", "description": "Cleavage of the damaged purine" }, { "id": "R-RNO-110357", "name": "Displacement of DNA glycosylase by APEX1", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-110357", "resource": "Reactome", "description": "Displacement of DNA glycosylase by APEX1" }, { "id": "R-RNO-5649702", "name": "APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-5649702", "resource": "Reactome", "description": "APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O08760-1", "protein_name": "N-glycosylase/DNA lyase", "gene_name": "Ogg1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLFRSWLPSSMRHRTLSSSPALWASIPCPRSELRLDLVLASGQSFRWKEQSPAHWSGVLADQVWTLTQTEDQLYCTVYRGDDSQVSRPTLEELETLHKYFQLDVSLAQLYSHWASVDSHFQRVAQKFQGVRLLRQDPTECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPNLHALAGPEAETHLRKLGLGYRARYVRASAKAILEEQGGPAWLQQLRVAPYEEAHKALCTLPGVGAKVADCICLMALDKPQAVPVDVHVWQIAHRDYGWHPKTSQAKGPSPLANKELGNFFRNLWGPYAGWAQAVLFSADLRQPSLSREPPAKRKKGSKRPEG", "length": 345 }, "evidence": [ { "id": "45229724", "url": "http://www.informatics.jax.org/homology/45229724", "database": "MGI" }, { "id": "O70249", "url": "https://omabrowser.org/oma/group/O70249/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "O15527-1", "protein_name": "N-glycosylase/DNA lyase", "gene_name": "OGG1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPARALLPRRMGHRTLASTPALWASIPCPRSELRLDLVLPSGQSFRWREQSPAHWSGVLADQVWTLTQTEEQLHCTVYRGDKSQASRPTPDELEAVRKYFQLDVTLAQLYHHWGSVDSHFQEVAQKFQGVRLLRQDPIECLFSFICSSNNNIARITGMVERLCQAFGPRLIQLDDVTYHGFPSLQALAGPEVEAHLRKLGLGYRARYVSASARAILEEQGGLAWLQQLRESSYEEAHKALCILPGVGTKVADCICLMALDKPQAVPVDVHMWHIAQRDYSWHPTTSQAKGPSPQTNKELGNFFRSLWGPYAGWAQAVLFSADLRQSRHAQEPPAKRRKGSKGPEG", "length": 345 }, "evidence": [ { "id": "45229724", "url": "http://www.informatics.jax.org/homology/45229724", "database": "MGI" }, { "id": "O70249", "url": "https://omabrowser.org/oma/group/O70249/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9V3I8-1", "protein_name": "N-glycosylase/DNA lyase", "gene_name": "Ogg1", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLAHNLGFHKKRLFSNMKAVLQDRGVIGLSLEECDLERTLLGGQSFRWRSICDGNRTKYGGVVFNTYWVLQQEESFITYEAYGTSSPLATKDYSSLISDYLRVDFDLKVNQKDWLSKDDNFVKFLSKPVRLLSQEPFENIFSFLCSQNNNIKRISSMIEWFCATFGTKIGHFNGADAYTFPTINRFHDIPCEDLNAQLRAAKFGYRAKFIAQTLQEIQKKGGQNWFISLKSMPFEKAREELTLLPGIGYKVADCICLMSMGHLESVPVDIHIYRIAQNYYLPHLTGQKNVTKKIYEEVSKHFQKLHGKYAGWAQAILFSADLSQFQNTSTVACKKKSNKKPKK", "length": 343 }, "evidence": [ { "id": "O70249", "url": "https://omabrowser.org/oma/group/O70249/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "oxidized purine DNA binding", "id": "GO:0032357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032357", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "8-oxo-7,8-dihydroguanine DNA N-glycosylase activity", "id": "GO:0034039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034039", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "DNA N-glycosylase activity", "id": "GO:0019104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019104", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "class I DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0140078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140078", "evidence": [ { "database": 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"GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "base-excision repair, AP site formation", "id": "GO:0006285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006285", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O70249", "url": "https://www.uniprot.org/uniprot/O70249" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 327, "end_pos": 329, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "66592", "name": "", "equation": "2'-deoxyribonucleotide-(2'-deoxyribose 5'-phosphate)-2'-deoxyribonucleotide-DNA = a 3'-end 2'-deoxyribonucleotide-(2,3-dehydro-2,3-deoxyribose 5'-phosphate)-DNA + a 5'-end 5'-monophospho-2'-deoxyribonucleoside-DNA + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "D3ZVH2-1", "D3ZKJ8-1", "D4A4E8-1", "O70249-1", "P62909-1", "P06766-1", "Q969S2-1", "O15527-1", "P23396-1", "P78549-1", "Q8TAT5-1", "Q13686-1", "Q96FI4-1", "P06746-1", "P0CB42-1", "P62908-1", "O08760-1", "O35980-1", "Q8K203-1", "Q8K4Q6-1", "Q6R2P8-1", "Q8K409-1", "P31378-1", "P53397-1", "Q08214-1", "Q54CZ3-1", "Q86K43-1", "Q9V3I8-1", "Q9VIH0-1" ], "evidence": [ { "id": "66592", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/66592" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "D3ZKJ8", "gene_name": "Neil3", "activity": [ { "ec_number": "4.2.99.18", "activity": 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