{ "uniprot_canonical_ac": "Q06321-1", "uniprot_ac": "Q06321", "uniprot_id": "ATG26_YEAST", "mass": { "chemical_mass": 136054.0, "monoisotopic_mass": 136054.0 }, "refseq": { "ac": "NP_013290", "name": "sterol 3-beta-glucosyltransferase", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013290" }, "gene_names": [ { "name": "ATG26", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q06321", "id": "Q06321" }, { "name": "ATG26", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013290", "id": "NP_013290" }, { "name": "UGT51", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013290", "id": "NP_013290" }, { "name": "UGT51", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q06321", "id": "Q06321" } ], "protein_names": [ { "name": "Sterol 3-beta-glucosyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q06321" }, { "name": "2.4.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q06321" }, { "name": "2.4.1.173", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q06321" }, { "name": "Autophagy-related protein 26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q06321" }, { "name": "UDP-glycosyltransferase 51", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q06321" }, { "name": "sterol 3-beta-glucosyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013290", "id": "NP_013290" } ], "function": [ { "annotation": "Sterol glycosyltransferase responsible for the glycosylation of ergosterol to form ergosterol-glucoside (PubMed:10224056, PubMed:30395931). Shows also activity in vitro on other sterols such as cholesterol, beta-sitosterol, stigmasterol and tomatidine (PubMed:10224056). In contrasts to what is observed in Pichia pastoris and Aspergillus oryzae, is not involved in cytoplasm to vacuole transport (Cvt), pexophagy or nonselective autophagy in Saccharomyces cerevisiae (PubMed:17012830).", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321#function" }, { "database": "PubMed", "id": "17012830", "url": "https://glygen.org/publication/PubMed/17012830" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" }, { "database": "PubMed", "id": "10224056", "url": "https://glygen.org/publication/PubMed/10224056" } ] } ], "disease": [ { "disease_id": "DOID:10211", "recommended_name": { "id": "DOID:10211", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10211", "name": "cholelithiasis", "description": "" }, "synonyms": [], "evidence": [ { "id": "10211", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ] }, { "disease_id": "DOID:11151", "recommended_name": { "id": "DOID:11151", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11151", "name": "cholecystolithiasis", "description": "" }, "synonyms": [], "evidence": [ { "id": "11151", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11151" } ] }, { "disease_id": "DOID:1380", "recommended_name": { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus." }, "synonyms": [ { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial Ca", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "DOID:1380", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1380", "name": "tumor of Endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity)." }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumor of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "tumour of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "cancer of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial Ca", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, familial, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrial carcinoma, somatic", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "endometrium cancer", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrial neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant endometrium neoplasm", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "malignant neoplasm of endometrium", "description": "" }, { "id": "MONDO:0011962", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011962", "name": "primary malignant neoplasm of endometrium", "description": "" }, { "id": "MIM:608089", "resource": "MIM", "url": "https://www.omim.org/entry/608089", "name": "Endometrial cancer", "description": "Endometrial cancer" } ], "evidence": [ { "id": "1380", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ] }, { "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:2043", "recommended_name": { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B", "description": "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice." }, "synonyms": [ { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "chronic hepatitis B", "description": "" }, { "id": "DOID:2043", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2043", "name": "hepatitis B infection", "description": "" } ], "evidence": [ { "id": "2043", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ] }, { "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:2739", "recommended_name": { "id": "DOID:2739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2739", "name": "Gilbert syndrome", "description": "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity." }, "synonyms": [ { "id": "DOID:2739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2739", "name": "Constitutional hyperbilirubinemia", "description": "" }, { "id": "DOID:2739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2739", "name": "Gilbert's disease", "description": "" }, { "id": "DOID:2739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2739", "name": "Gilbert's syndrome", "description": "" }, { "id": "DOID:2739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2739", "name": "Gilbert-Meulengracht syndrome", "description": "" }, { "id": "DOID:2739", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2739", "name": "hereditary nonhemolytic jaundice", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "Gilbert syndrome", "description": "An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice." }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "Gilbert disease", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "Gilbert syndrome", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "Gilbert's disease", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "Gilbert's syndrome", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "Gilbert-Meulengracht syndrome", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "constitutional hyperbilirubinemia", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "familial cholemia", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "hereditary nonhemolytic jaundice", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "hyperbilirubinemia type 1", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "hyperbilirubinemia 1", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "hyperbilirubinemia, Arias type", "description": "" }, { "id": "MONDO:0007745", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007745", "name": "hyperbilirubinemia, Gilbert type", "description": "" }, { "id": "MIM:143500", "resource": "MIM", "url": "https://www.omim.org/entry/143500", "name": "Gilbert syndrome", "description": "Gilbert syndrome" } ], "evidence": [ { "id": "2739", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2739" } ] }, { "disease_id": "DOID:2741", "recommended_name": { "id": "DOID:2741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism." }, "synonyms": [ { "id": "DOID:2741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2741", "name": "hereditary hyperbilirubinemia", "description": "" }, { "id": "DOID:2741", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2741", "name": "hyperbilirubinemia", "description": "" } ], "evidence": [ { "id": "2741", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ] }, { "disease_id": "DOID:3803", "recommended_name": { "id": "DOID:3803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3803", "name": "Crigler-Najjar syndrome", "description": "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)." }, "synonyms": [ { "id": "DOID:3803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3803", "name": "Bilirubin UDP glucuronyl transferase deficiency", "description": "" }, { "id": "DOID:3803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3803", "name": "Crigler Najjar syndrome", "description": "" }, { "id": "DOID:3803", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3803", "name": "Crigler-Najjar syndrome, type I", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "Crigler-Najjar syndrome type 1", "description": "Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT)." }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "Crigler-Najjar syndrome, type 1", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "Crigler-Najjar syndrome, type I", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "UGT deficiency type 1", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "bilirubin-UGT deficiency type 1", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "hereditary unconjugated hyperbilirubinemia type 1", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "hyperbilirubinemia, Crigler-Najjar type 1", "description": "" }, { "id": "MONDO:0021020", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021020", "name": "Crigler Najjar syndrome, type 1", "description": "" }, { "id": "MIM:218800", "resource": "MIM", "url": "https://www.omim.org/entry/218800", "name": "Crigler-Najjar syndrome 1", "description": "Crigler-Najjar syndrome 1" } ], "evidence": [ { "id": "3803", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3803" } ] }, { "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: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:4988", "recommended_name": { "id": "DOID:4988", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4988", "name": "alcoholic pancreatitis", "description": "" }, "synonyms": [], "evidence": [ { "id": "4988", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ] }, { "disease_id": "DOID:7998", "recommended_name": { "id": "DOID:7998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone." }, "synonyms": [ { "id": "DOID:7998", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7998", "name": "overactive thyroid", "description": "" } ], "evidence": [ { "id": "7998", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ] }, { "disease_id": "DOID:8692", "recommended_name": { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue." }, "synonyms": [ { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "Non-Lymphocytic Leukemia", "description": "" }, { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "leukaemia myelogenous", "description": "" }, { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "leukemia myelogenous", "description": "" }, { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "myeloid granulocytic leukaemia", "description": "" }, { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "myeloid granulocytic leukemia", "description": "" }, { "id": "DOID:8692", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8692", "name": "myeloid leukaemia", "description": "" } ], "evidence": [ { "id": "8692", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ] }, { "disease_id": "DOID:8778", "recommended_name": { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine." }, "synonyms": [ { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn disease", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of colon", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Crohn's disease of large bowel", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Granulomatous Colitis", "description": "" }, { "id": "DOID:8778", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8778", "name": "Pediatric Crohn's disease", "description": "" } ], "evidence": [ { "id": "8778", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ] }, { "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": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9744", "recommended_name": { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production." }, "synonyms": [ { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "IDDM", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9744", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9744", "name": "type I diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes mellitus", "description": "A chronic condition characterized by minimal or absent production of insulin by the pancreas." }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "IDDM", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type 1", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "diabetes mellitis type I", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "immune mediated diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "juvenile diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type 1 diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes", "description": "" }, { "id": "MONDO:0005147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005147", "name": "type I diabetes mellitus", "description": "" }, { "id": "MIM:222100", "resource": "MIM", "url": "https://www.omim.org/entry/222100", "name": "Type 1 diabetes mellitus", "description": "Type 1 diabetes mellitus" } ], "evidence": [ { "id": "9744", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 801, "end_pos": 801, "sequence_org": "S", "sequence_mut": "A", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-802; A-804; A-812; K-816; A-849 and D-892.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] }, { "start_pos": 802, "end_pos": 802, "sequence_org": "L", "sequence_mut": "A", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-801; A-804; A-812; K-816; A-849 and D-892.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] }, { "start_pos": 804, "end_pos": 804, "sequence_org": "V", "sequence_mut": "A", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-801; A-802; A-812; K-816; A-849 and D-892.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] }, { "start_pos": 812, "end_pos": 812, "sequence_org": "K", "sequence_mut": "A", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-801; A-802; A-804; K-816; A-849 and D-892.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] }, { "start_pos": 816, "end_pos": 816, "sequence_org": "E", "sequence_mut": "K", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-801; A-802; A-804; A-812; A-849 and D-892.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] }, { "start_pos": 849, "end_pos": 849, "sequence_org": "S", "sequence_mut": "A", "comment": "Displays a reduced affinity for cholesterol.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" } ] }, { "start_pos": 849, "end_pos": 849, "sequence_org": "S", "sequence_mut": "A", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-801; A-802; A-804; A-812; K-816 and D-892.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] }, { "start_pos": 849, "end_pos": 849, "sequence_org": "S", "sequence_mut": "P", "comment": "Increases the activity toward diosgenin, but does not affect the activity for cholesterol.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" } ] }, { "start_pos": 849, "end_pos": 849, "sequence_org": "S", "sequence_mut": "T", "comment": "Increases the activity toward diosgenin and pregnenolone, but does not affect the activity for cholesterol.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" } ] }, { "start_pos": 851, "end_pos": 851, "sequence_org": "M", "sequence_mut": "A", "comment": "Displays a reduced affinity for cho-lesterol.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" } ] }, { "start_pos": 851, "end_pos": 851, "sequence_org": "M", "sequence_mut": "P", "comment": "Increases the activity toward diosgenin and pregnenolone, but does not affect the activity for cholesterol.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" } ] }, { "start_pos": 851, "end_pos": 851, "sequence_org": "M", "sequence_mut": "Y", "comment": "Reduces the activities toward acceptor substrates and completely abolishes the activity with protopanaxadiol.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "30395931", "url": "https://glygen.org/publication/PubMed/30395931" } ] }, { "start_pos": 892, "end_pos": 892, "sequence_org": "N", "sequence_mut": "D", "comment": "In M7-1: Changes substrate-specificity towards protopanaxadiol to produce ginsenoside Rh2; when associated with A-801; A-802; A-804; A-812; K-816 and A-849.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" }, { "database": "PubMed", "id": "28479190", "url": "https://glygen.org/publication/PubMed/28479190" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" } ], "common_name": "Yeast" } ], "gene": [ { "name": "ATG26", "url": "https://www.uniprot.org/uniprot/Q06321", "locus": { "chromosome": "XII", "start_pos": 530797, "end_pos": 534393, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "YLR189C", "url": "https://www.ensembl.org/id/YLR189C" } ] } } ], "crossref": [ { "id": "2.4.1.173", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=2.4.1.173&UniProtAcc=Q06321", "database": "BRENDA", "categories": [ "Enzyme and Pathway" ] }, { "id": "GT1", "url": "http://www.cazy.org/GT1.html", "database": "CAZy", "categories": [ "Protein Classification" ] }, { "id": "cd03784", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd03784", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd13215", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd13215", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd13216", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd13216", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "850886", "url": "https://www.ncbi.nlm.nih.gov/gene/850886", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q06321", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q06321*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001849", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002213", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002213", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004182", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004182", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR004276", "url": "https://www.ebi.ac.uk/interpro/entry/IPR004276", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "sce:YLR189C", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+sce:YLR189C", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "YYAYLHR", "url": "https://omabrowser.org/oma/group/YYAYLHR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "76239at2759", "url": "http://www.orthodb.org/?query=76239at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR48050", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48050", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR48050:SF25", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR48050:SF25", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5GL5", "url": "https://www.rcsb.org/structure/5GL5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5XVM", "url": "https://www.rcsb.org/structure/5XVM", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00169", "url": "http://pfam.xfam.org/family/PF00169", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00201", "url": "http://pfam.xfam.org/family/PF00201", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02893", "url": "http://pfam.xfam.org/family/PF02893", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF03033", "url": "http://pfam.xfam.org/family/PF03033", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q06321", "url": "http://purl.obolibrary.org/obo/PR_Q06321", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_013290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013290", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "S000004179", "url": "https://www.yeastgenome.org/locus/S000004179", "database": "SGD", "categories": [ "Organism-specific" ] }, { "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q06321-1", "url": "https://www.uniprot.org/uniprot/Q06321-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPITQIISASDSEAGPKPSISLVPDKPSEPETSPRHHRLSRSLSKFKRWRGRSNSSLSMGSSEQQELQDSPNEARSDDDENGYNNDNADDLAKSKYMMKSIAGLLTTASVYAGMNNAQEMNVLSQVDSEESDSSDSFQENIGRNEVKSKKENLKTKSHPEVPRLDKRKPTLFDFSITREKLSKDNVAKLRQRFCLDEQEPFLNDFPAWLLKDVLVQGHIFITTKHFLFFAYLPKNPRSVKMSGNLNIRTKLIRSTRYWCVLKNHLFSMYTSSTELYFPVLTIDLREVQKIETQKHTLNGSATKTFKLYTDESTFKFNADSEFSAKSWVNALKKEQFAAQNSENNSISLKIPLPNIIEIDDQPIVNKALTLRLRALESSQTYAIDDFMFVFMDGSGSQVKESLGEQLAILQKSGVNTLYYDIPAKKSKSSFGKETPATVEQKNNGEDSKYLNVPTSAVPSSENGKKSRFRFRERSNSWFRRAKPLEDSQVEDVEEIYKDAANDIDSSVHSTIHIHEQEDSQEQTVAWKPSHLKNFAEMWAAKPIHYRNKFIPFQKDDTYLIKETEEVSANERFRYHFKFNKEKSLISTYYTYLNRNVPVYGKIYVSNDTVCFRSLLPGSNTYMVLPLVDVETCYKEKGFRFGYFVLVIVIHGHEELFFEFSTEVARDDIERILLKLLDNIYASSAEGSNISSASLGDVQHNPDSAKLKLFEDKINAEGFEVPLMIDENPHYKTSIKPNKSYKFGLLTIGSRGDVQPYIALGKGLIKEGHQVVIITHSEFRDFVESHGIQFEEIAGNPVELMSLMVENESMNVKMLREASSKFRGWIDALLQTSWEVCNRRKFDILIESPSAMVGIHITEALQIPYFRAFTMPWTRTRAYPHAFIVPDQKRGGNYNYLTHVLFENVFWKGISGQVNKWRVETLGLGKTNLFLLQQNNVPFLYNVSPTIFPPSIDFSEWVRVTGYWFLDDKSTFKPPAELQEFISEARSKGKKLVYIGFGSIVVSNAKEMTEALVEAVMEADVYCILNKGWSERLGDKAAKKTEVDLPRNILNIGNVPHDWLFPQVDAAVHHGGSGTTGASLRAGLPTVIKPFFGDQFFYAGRVEDIGVGIALKKLNAQTLADALKVATTNKIMKDRAGLIKKKISKEDGIKTAISAIYNELEYARSVTLSRVKTPRKKEENVDATKLTPAETTDEGWTMI", "length": 1198, "header": "sp|Q06321-1|ATG26_YEAST Isoform 1 of Sterol 3-beta-glucosyltransferase OS=Saccharomyces cerevisiae S288C OX=559292 GN=ATG26 PE=1 SV=1 CANONICAL=Q06321-1" }, "isoforms": [ { "isoform_ac": "Q06321-1", "url": "", "sequence": { "sequence": "MPITQIISASDSEAGPKPSISLVPDKPSEPETSPRHHRLSRSLSKFKRWRGRSNSSLSMGSSEQQELQDSPNEARSDDDENGYNNDNADDLAKSKYMMKSIAGLLTTASVYAGMNNAQEMNVLSQVDSEESDSSDSFQENIGRNEVKSKKENLKTKSHPEVPRLDKRKPTLFDFSITREKLSKDNVAKLRQRFCLDEQEPFLNDFPAWLLKDVLVQGHIFITTKHFLFFAYLPKNPRSVKMSGNLNIRTKLIRSTRYWCVLKNHLFSMYTSSTELYFPVLTIDLREVQKIETQKHTLNGSATKTFKLYTDESTFKFNADSEFSAKSWVNALKKEQFAAQNSENNSISLKIPLPNIIEIDDQPIVNKALTLRLRALESSQTYAIDDFMFVFMDGSGSQVKESLGEQLAILQKSGVNTLYYDIPAKKSKSSFGKETPATVEQKNNGEDSKYLNVPTSAVPSSENGKKSRFRFRERSNSWFRRAKPLEDSQVEDVEEIYKDAANDIDSSVHSTIHIHEQEDSQEQTVAWKPSHLKNFAEMWAAKPIHYRNKFIPFQKDDTYLIKETEEVSANERFRYHFKFNKEKSLISTYYTYLNRNVPVYGKIYVSNDTVCFRSLLPGSNTYMVLPLVDVETCYKEKGFRFGYFVLVIVIHGHEELFFEFSTEVARDDIERILLKLLDNIYASSAEGSNISSASLGDVQHNPDSAKLKLFEDKINAEGFEVPLMIDENPHYKTSIKPNKSYKFGLLTIGSRGDVQPYIALGKGLIKEGHQVVIITHSEFRDFVESHGIQFEEIAGNPVELMSLMVENESMNVKMLREASSKFRGWIDALLQTSWEVCNRRKFDILIESPSAMVGIHITEALQIPYFRAFTMPWTRTRAYPHAFIVPDQKRGGNYNYLTHVLFENVFWKGISGQVNKWRVETLGLGKTNLFLLQQNNVPFLYNVSPTIFPPSIDFSEWVRVTGYWFLDDKSTFKPPAELQEFISEARSKGKKLVYIGFGSIVVSNAKEMTEALVEAVMEADVYCILNKGWSERLGDKAAKKTEVDLPRNILNIGNVPHDWLFPQVDAAVHHGGSGTTGASLRAGLPTVIKPFFGDQFFYAGRVEDIGVGIALKKLNAQTLADALKVATTNKIMKDRAGLIKKKISKEDGIKTAISAIYNELEYARSVTLSRVKTPRKKEENVDATKLTPAETTDEGWTMI", 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albicans, Pichia pastoris, and Dictyostelium discoideum.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Erdmann R., Mueller F., Heinz E., Zaehringer U., Fahl A., Hube B., Warnecke D.C., Zank T.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" } ], "reference": [ { "type": "PubMed", "id": "10224056", "url": "https://glygen.org/publication/PubMed/10224056" } ] }, { "title": "A unified nomenclature for yeast autophagy-related genes.", "journal": "Dev. Cell", "date": "2003", "authors": "Sakai Y., Subramani S., Klionsky D.J., Dunn W.A. Jr., Ohsumi Y., Sandoval I.V., Cregg J.M., Emr S.D., Thumm M., Veenhuis M., Sibirny A.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" } ], "reference": [ { "type": "PubMed", "id": "14536056", "url": "https://glygen.org/publication/PubMed/14536056" } ] }, { "title": "Global analysis of protein localization in budding yeast.", "journal": "Nature", "date": "2003", "authors": "Weissman J.S., Carroll A.S., Howson R.W., Huh W.-K., O'Shea E.K., Falvo J.V., Gerke L.C.", "evidence": [ { "database": "UniProtKB", "id": "Q06321", "url": "https://www.uniprot.org/uniprot/Q06321" } ], "reference": [ { "type": "PubMed", "id": "14562095", "url": "https://glygen.org/publication/PubMed/14562095" } ] }, { "title": "Global analysis of protein expression in yeast.", "journal": "Nature", "date": "2003", "authors": "Dephoure N., Weissman J.S., Howson R.W., Huh W.-K., O'Shea E.K., Belle A., Bower K., Ghaemmaghami S.", "evidence": [ { "database": 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