{ "uniprot_canonical_ac": "P41939-1", "uniprot_ac": "P41939", "uniprot_id": "IDHC_YEAST", "mass": { "chemical_mass": 46562.0, "monoisotopic_mass": 46562.0 }, "refseq": { "ac": "NP_013275", "name": "isocitrate dehydrogenase (NADP(+)) IDP2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013275" }, "gene_names": [ { "name": "IDP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P41939", "id": "P41939" }, { "name": "IDP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013275", "id": "NP_013275" }, { "name": "L9470.12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P41939", "id": "P41939" } ], "protein_names": [ { "name": "Isocitrate dehydrogenase [NADP] cytoplasmic", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P41939" }, { "name": "1.1.1.42", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41939" }, { "name": "IDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41939" }, { "name": "IDP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41939" }, { "name": "NADP(+)-specific ICDH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41939" }, { "name": "Oxalosuccinate decarboxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P41939" }, { "name": "isocitrate dehydrogenase (NADP(+)) IDP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_013275", "id": "NP_013275" } ], "function": [ { "annotation": "May function in the production of NADPH for fatty acid and sterol synthesis.", "evidence": [ { "database": "UniProtKB", "id": "P41939", "url": "https://www.uniprot.org/uniprot/P41939#function" } ] } ], "disease": [ { "disease_id": "DOID:0050575", "recommended_name": { "id": "DOID:0050575", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050575", "name": "D-2-hydroxyglutaric aciduria", "description": "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory." }, "synonyms": [ { "id": "MONDO:0024554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024554", "name": "D-2-hydroxyglutaric aciduria 1", "description": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." }, { "id": "MONDO:0024554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024554", "name": "D-2-hydroxyglutaric aciduria", "description": "" }, { "id": "MONDO:0024554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024554", "name": "D-2-hydroxyglutaric aciduria 1", "description": "" }, { "id": "MONDO:0024554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024554", "name": "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH", "description": "" }, { "id": "MONDO:0024554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024554", "name": "D2HGDH D-2-hydroxyglutaric aciduria", "description": "" }, { "id": "MONDO:0024554", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024554", "name": "D2HGA1", "description": "" }, { "id": "MIM:600721", "resource": "MIM", "url": "https://www.omim.org/entry/600721", "name": "D-2-hydroxyglutaric aciduria 1", "description": "D-2-hydroxyglutaric aciduria 1" } ], "evidence": [ { "id": "0050575", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050575" } ] }, { "disease_id": "DOID:0050908", "recommended_name": { "id": "DOID:0050908", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets." }, "synonyms": [ { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "MDS-U", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "dysmyelopoietic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "hematopoeitic - myelodysplastic syndrome (MDS)", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplasia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, somatic", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, unclassifiable", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome/neoplasm", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndromes", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukaemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "oligoblastic leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "preleukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smoldering leukemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "smouldering leukaemia", "description": "" }, { "id": "MONDO:0018881", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018881", "name": "myelodysplastic syndrome, susceptibility to", "description": "" }, { "id": "MIM:614286", "resource": "MIM", "url": "https://www.omim.org/entry/614286", "name": "Myelodysplastic syndrome", "description": "Myelodysplastic syndrome" } ], "evidence": [ { "id": "0050908", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ] }, { "disease_id": "DOID:0080005", "recommended_name": { "id": "DOID:0080005", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080005", "name": "bone remodeling disease", "description": "A bone disease that results_in formation or resorption abnormalities located_in bone." }, "synonyms": [], "evidence": [ { "id": "0080005", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080005" } ] }, { "disease_id": "DOID:0111352", "recommended_name": { "id": "DOID:0111352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111352", "name": "D-2-hydroxyglutaric aciduria 2", "description": "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1." }, "synonyms": [ { "id": "DOID:0111352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111352", "name": "D2HGA2", "description": "" }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "d-2-hydroxyglutaric aciduria 2", "description": "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "D-2-hydroxyglutaric aciduria caused by mutation in IDH2", "description": "" }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "D-2-hydroxyglutaric aciduria type 2", "description": "" }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "IDH2 D-2-hydroxyglutaric aciduria", "description": "" }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "d-2-hydroxyglutaric aciduria 2", "description": "" }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "D-2-hydroxyglutaric aciduria 2", "description": "" }, { "id": "MONDO:0013345", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013345", "name": "D2HGA2", "description": "" }, { "id": "MIM:613657", "resource": "MIM", "url": "https://www.omim.org/entry/613657", "name": "D-2-hydroxyglutaric aciduria 2", "description": "D-2-hydroxyglutaric aciduria 2" } ], "evidence": [ { "id": "0111352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111352" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "evidence": [ { "id": "10534", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:162", "recommended_name": { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis." }, "synonyms": [ { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "malignant neoplasm", "description": "" }, { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "malignant tumor", "description": "" }, { "id": "DOID:162", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:162", "name": "primary cancer", "description": "" } ], "evidence": [ { "id": "162", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:162" } ] }, { "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:3068", "recommended_name": { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes." }, "synonyms": [ { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "GBM", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "adult glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "grade IV adult Astrocytic tumor", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "primary glioblastoma multiforme", "description": "" }, { "id": "DOID:3068", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3068", "name": "spongioblastoma multiforme", "description": "" } ], "evidence": [ { "id": "3068", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ] }, { "disease_id": "DOID:3070", "recommended_name": { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine." }, "synonyms": [ { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant glioma", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "Neuroglial tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glial cell tumor", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "glioma, malignant", "description": "" }, { "id": "DOID:3070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3070", "name": "malignant Neuroglial tumor", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "GLM1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma susceptibility 1, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma, susceptibility to, somatic", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "astrocytoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "ependymoma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioblastoma multiforme", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "glioma of brain, familial", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "oligodendroglioma", "description": "" }, { "id": "MONDO:0024498", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024498", "name": "subependymoma", "description": "" }, { "id": "MIM:137800", "resource": "MIM", "url": "https://www.omim.org/entry/137800", "name": "Glioma 1", "description": "Glioma 1" } ], "evidence": [ { "id": "3070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ] }, { "disease_id": "DOID:3748", "recommended_name": { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus." }, "synonyms": [ { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of esophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "SCC of oesophagus", "description": "" }, { "id": "DOID:3748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3748", "name": "oesophagus squamous cell carcinoma", "description": "" } ], "evidence": [ { "id": "3748", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ] }, { "disease_id": "DOID:3907", "recommended_name": { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." }, "synonyms": [ { "id": "DOID:3907", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3907", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "evidence": [ { "id": "3907", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ] }, { "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:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:417", "recommended_name": { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues." }, "synonyms": [ { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "hypersensitivity reaction type II disease", "description": "" }, { "id": "DOID:417", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:417", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis)." }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disease or disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune disorder", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "disease, autoimmune", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "autoimmune hypersensitivity disease", "description": "" }, { "id": "MONDO:0007179", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007179", "name": "hypersensitivity reaction type II disease", "description": "" } ], "evidence": [ { "id": "417", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:417" } ] }, { "disease_id": "DOID:4928", "recommended_name": { "id": "DOID:4928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree." }, "synonyms": [ { "id": "DOID:4928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4928", "name": "Intrahepatic bile duct carcinoma", "description": "" }, { "id": "DOID:4928", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4928", "name": "peripheral Cholangiocarcinoma", "description": "" } ], "evidence": [ { "id": "4928", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ] }, { "disease_id": "DOID:5016", "recommended_name": { "id": "DOID:5016", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5016", "name": "hepatocellular clear cell carcinoma", "description": "" }, "synonyms": [ { "id": "DOID:5016", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5016", "name": "Clear cell carcinoma of the Liver cells", "description": "" }, { "id": "DOID:5016", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5016", "name": "Hepatocellular carcinoma, clear cell type", "description": "" } ], "evidence": [ { "id": "5016", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5016" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": 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Natl. Acad. Sci. U.S.A.", "date": "2012", "authors": "Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E, Prieto J, Arnesen T, Sherman F, Gevaert K, Aldabe R", "evidence": [ { "database": "UniProtKB", "id": "P41939", "url": "https://www.uniprot.org/uniprot/P41939" } ], "reference": [ { "type": "PubMed", "id": "22814378", "url": "https://glygen.org/publication/PubMed/22814378" } ] }, { "title": "The reference genome sequence of Saccharomyces cerevisiae: Then and now.", "journal": "G3 (Bethesda)", "date": "2014", "authors": "Engel Stacia R, Dietrich Fred S, Fisk Dianna G, Binkley Gail, Balakrishnan Rama, Costanzo Maria C, Dwight Selina S, Hitz Benjamin C, Karra Kalpana, Nash Robert S, Weng Shuai, Wong Edith D, Lloyd Paul, Skrzypek Marek S, Miyasato Stuart R, Simison Matt, Cherry J Michael", "evidence": [ { "database": "UniProtKB", "id": "P41939", "url": "https://www.uniprot.org/uniprot/P41939" } ], "reference": [ { "type": "PubMed", "id": "24374639", "url": "https://glygen.org/publication/PubMed/24374639" } ] }, { "title": "Isolation, characterization, and disruption of the yeast gene encoding cytosolic NADP-specific isocitrate dehydrogenase.", "journal": "Biochemistry", "date": "1994", "authors": "Anderson S.L., McAlister-Henn L., Loftus T.M., Hall L.V.", "evidence": [ { "database": "UniProtKB", "id": "P41939", "url": "https://www.uniprot.org/uniprot/P41939" } ], "reference": [ { "type": "PubMed", "id": "8068643", "url": "https://glygen.org/publication/PubMed/8068643" } ] }, { "title": "The nucleotide sequence of Saccharomyces cerevisiae chromosome XII.", "journal": "Nature", "date": "1997", "authors": "Ansorge W., Duesterhoeft A., Hillier L.W., Mewes H.-W., Obermaier B., Scharfe M., Wambutt R., Wedler H., Verhasselt P., Rose M., Benes V., Brueckner M., Rieger M., Portetelle D., Delius H., Schwarz S., Kleine K., Floeth M., Schwager C., Voss H., Hoheisel J.D., Dubois E., Volckaert G., Andre B., Koetter 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