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"https://www.alliancegenome.org/disease/DOID:12010" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": 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regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" }, { "name": "negative regulation of receptor-mediated endocytosis", "id": "GO:0048261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048261", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": 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"database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6ABA8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6ABA8" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": 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"https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "actin filament bundle", "id": "GO:0032432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032432", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "Myb complex", "id": "GO:0031523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031523", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "GTPase binding", "id": "GO:0051020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051020", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "Fc-gamma receptor I complex binding", "id": "GO:0034988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034988", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" } ], "biological_process": [ { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "positive regulation of axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:0007195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007195", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "actin crosslink formation", "id": "GO:0051764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051764", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transmembrane transport", "id": "GO:1901381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901381", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" }, { "name": "protein localization to bicellular tight junction", "id": "GO:1902396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902396", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZV49", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZV49" } ], "pmid": "" 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"name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "pericentric heterochromatin formation", "id": "GO:0031508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031508", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of stem cell proliferation", "id": "GO:2000648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000648", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "cellular response to endothelin", "id": "GO:1990859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990859", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "subtelomeric heterochromatin formation", "id": "GO:0031509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031509", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of protein export from nucleus", "id": "GO:0046827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of blood vessel branching", "id": "GO:1905555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905555", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process", "id": "GO:0045820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045820", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "regulation of protein secretion", "id": "GO:0050708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050708", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "protein delipidation", "id": "GO:0051697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051697", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "protein deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of stem cell differentiation", "id": "GO:2000738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000738", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "post-embryonic cardiac muscle cell growth involved in heart morphogenesis", "id": "GO:0003247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003247", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "regulation of lipid catabolic process", "id": "GO:0050994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050994", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "regulation of double-strand break repair via homologous recombination", "id": "GO:0010569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010569", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "negative regulation of protein localization to chromatin", "id": "GO:0120186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120186", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "positive regulation of protein localization to chromatin", "id": "GO:0120187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120187", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "ketone biosynthetic process", "id": "GO:0042181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042181", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" } ], "molecular_function": [ { "name": "NAD+-protein mono-ADP-ribosyltransferase activity", "id": "GO:1990404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990404", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "histone H3K18 deacetylase activity, NAD-dependent", "id": "GO:0097372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097372", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "nucleosome binding", "id": "GO:0031491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031491", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "histone deacetylase activity, NAD-dependent", "id": "GO:0017136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017136", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "NAD-dependent protein lysine deacetylase activity", "id": "GO:0034979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034979", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "histone H3K9 deacetylase activity, NAD-dependent", "id": "GO:0046969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046969", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6APP5", "url": "https://www.uniprot.org/uniprotkb/A0A8I6APP5" } ], "pmid": "" }, { "name": "TORC2 complex binding", "id": "GO:1904841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904841", "evidence": [ { 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.", "url": "https://disease-ontology.org/term/DOID:0050426", "evidence": [ { "id": "0050426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080160", "name": "Cytomegalovirus retinitis", "description": "A retinitis that has_material_basis_in Cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:0080160", "evidence": [ { "id": "0080160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080160" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080603", "name": "ankylosing spondylitis 1", "description": "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.", "url": "https://disease-ontology.org/term/DOID:0080603", "evidence": [ { "id": "0080603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080603" } ], "weight": 0.0 }, { "disease_id": "DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. 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The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11563", "name": "retinal vasculitis", "description": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.", "url": "https://disease-ontology.org/term/DOID:11563", "evidence": [ { "id": "11563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11563" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "weight": 0.0 }, { "disease_id": "DOID:2703", "name": "synovitis", "description": "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.", "url": "https://disease-ontology.org/term/DOID:2703", "evidence": [ { "id": "2703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2703" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3611", "name": "acute retinal necrosis syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:3611", "evidence": [ { "id": "3611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3611" } ], "weight": 0.0 }, { "disease_id": "DOID:3875", "name": "thrombophlebitis", "description": "A phlebitis that results from a blood clot in the vessel.", "url": "https://disease-ontology.org/term/DOID:3875", "evidence": [ { "id": "3875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3875" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 } ], "biological_process": [ { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" }, { "name": "beta-2-microglobulin binding", "id": "GO:0030881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030881", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYQ2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYQ2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A8I5ZYQ2-1" }, { "uniprot_canonical_ac": "A0A8I5ZYW6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYW6", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYW6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 601, "chemical_mass": 69771.0, "gene_names": "Galntl6;Galnt17;Galntl6;RGD1564773", "protein_name": "Polypeptide N-acetylgalactosaminyltransferase", "disease": [ { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYW6", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYW6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYW6", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYW6" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYW6", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYW6" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZYW6", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZYW6" } ], "pmid": "" }, { "name": "polypeptide N-acetylgalactosaminyltransferase activity", "id": "GO:0004653", "url": 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"evidence": [ { "database": "UniProtKB", "id": "A0A8I6GBB8", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GBB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A8I6GBB8-1" }, { "uniprot_canonical_ac": "A0A8I5ZMC4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZMC4", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZMC4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1535, "chemical_mass": 168731.0, "gene_names": "Fgd5", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5ZMC4", "url": "https://www.uniprot.org/uniprotkb/A0A8I5ZMC4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", 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"uniprot_canonical_ac": "A0A8I5Y8F2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y8F2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y8F2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 443, "chemical_mass": 49387.0, "gene_names": "Efemp2;Efemp2", "protein_name": "EGF-containing fibulin-like extracellular matrix protein 2", "disease": [ { "disease_id": "DOID:0050645", "name": "arterial tortuosity syndrome", "description": "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.", "url": "https://disease-ontology.org/term/DOID:0050645", "evidence": [ { "id": "0050645", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050645" } ], "weight": 0.0 }, { "disease_id": "DOID:0070133", "name": "autosomal recessive cutis laxa type IB", "description": "An 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laxa", "description": "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.", "url": "https://disease-ontology.org/term/DOID:3144", "evidence": [ { "id": "3144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3144" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. 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"extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y8F2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y8F2" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y8F2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y8F2" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y8F2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y8F2" } ], "pmid": "" }, { "name": "microfibril", "id": "GO:0001527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001527", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y8F2", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y8F2" } ], "pmid": "" }, { "name": "elastic fiber", "id": "GO:0071953", 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manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded.", "url": "https://disease-ontology.org/term/DOID:0060536", "evidence": [ { "id": "0060536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060536" } ], "weight": 0.0 }, { "disease_id": "DOID:0112093", "name": "nuclear type mitochondrial complex I deficiency 3", "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3.", "url": "https://disease-ontology.org/term/DOID:0112093", "evidence": [ { "id": "0112093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112093" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "NADH dehydrogenase activity", "id": "GO:0003954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003954", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "NADH dehydrogenase (ubiquinone) activity", "id": "GO:0008137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008137", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "quinone binding", "id": "GO:0048038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048038", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "respiratory chain complex I", "id": "GO:0045271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045271", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial respiratory chain complex I assembly", "id": "GO:0032981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032981", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "mitochondrial electron transport, NADH to ubiquinone", "id": "GO:0006120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006120", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" }, { "name": "electron transport coupled proton transport", "id": "GO:0015990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015990", "evidence": [ { "database": "UniProtKB", "id": "F7ELE5", "url": "https://www.uniprot.org/uniprotkb/F7ELE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7ELE5-1" }, { "uniprot_canonical_ac": "F7ESE9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7ESE9", "url": "https://www.uniprot.org/uniprotkb/F7ESE9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 482, "chemical_mass": 52854.0, "gene_names": "Ess2", "protein_name": "", "disease": [ { "disease_id": "DOID:11198", "name": "DiGeorge syndrome", "description": "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.", "url": "https://disease-ontology.org/term/DOID:11198", "evidence": [ { "id": "11198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11198" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.", "url": "https://disease-ontology.org/term/DOID:12583", "evidence": [ { "id": "12583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12583" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F7ESE9", "url": "https://www.uniprot.org/uniprotkb/F7ESE9" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "F7ESE9", "url": "https://www.uniprot.org/uniprotkb/F7ESE9" } ], "pmid": "" } ], "biological_process": [ { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "F7ESE9", "url": "https://www.uniprot.org/uniprotkb/F7ESE9" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "F7ESE9", "url": "https://www.uniprot.org/uniprotkb/F7ESE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F7ESE9-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "F7ESE9-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Thr309", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 309, "start_aa": "Thr", "end_pos": 309, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr309", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "F7ESE9-1", "start_pos": "447", "end_pos": "447", "site_lbl": "Thr447", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 447, "start_aa": "Thr", "end_pos": 447, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr447", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F7ESE9-1" }, { "uniprot_canonical_ac": "F7EXP7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 558, "chemical_mass": 62663.0, "gene_names": "Snx7", "protein_name": "", "disease": [], "cellular_component": [ { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" }, { "name": "positive regulation of autophagosome assembly", "id": "GO:2000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000786", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "F7EXP7", "url": "https://www.uniprot.org/uniprotkb/F7EXP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7EXP7-1" }, { "uniprot_canonical_ac": "F7EZK6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 392, "chemical_mass": 42360.0, "gene_names": "Galk1", "protein_name": "Galactokinase", "disease": [ { "disease_id": "DOID:14695", "name": "galactokinase deficiency", "description": "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.", "url": "https://disease-ontology.org/term/DOID:14695", "evidence": [ { "id": "14695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14695" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 } ], "biological_process": [ { "name": "galactitol metabolic process", "id": "GO:0019402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019402", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "glycolytic process from galactose", "id": "GO:0061623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061623", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "galactose catabolic process via UDP-galactose, Leloir pathway", "id": "GO:0033499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033499", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "carbohydrate phosphorylation", "id": "GO:0046835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046835", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "galactokinase activity", "id": "GO:0004335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004335", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "galactose binding", "id": "GO:0005534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005534", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "F7EZK6", "url": "https://www.uniprot.org/uniprotkb/F7EZK6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"dUMP catabolic process", "id": "GO:0046079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046079", "evidence": [ { "database": "UniProtKB", "id": "F7F0D5", "url": "https://www.uniprot.org/uniprotkb/F7F0D5" } ], "pmid": "" }, { "name": "uridine catabolic process", "id": "GO:0006218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006218", "evidence": [ { "database": "UniProtKB", "id": "F7F0D5", "url": "https://www.uniprot.org/uniprotkb/F7F0D5" } ], "pmid": "" }, { "name": "UMP salvage", "id": "GO:0044206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044206", "evidence": [ { "database": "UniProtKB", "id": "F7F0D5", "url": "https://www.uniprot.org/uniprotkb/F7F0D5" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "F7F0D5", "url": "https://www.uniprot.org/uniprotkb/F7F0D5" } ], "pmid": "" }, { "name": "uridine metabolic process", "id": 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"" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "M0RCN9", "url": "https://www.uniprot.org/uniprotkb/M0RCN9" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "M0RCN9", "url": "https://www.uniprot.org/uniprotkb/M0RCN9" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "M0RCN9", "url": "https://www.uniprot.org/uniprotkb/M0RCN9" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "M0RCN9", "url": "https://www.uniprot.org/uniprotkb/M0RCN9" } ], "pmid": "" }, { "name": "multivesicular body", "id": 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y5I3", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y5I3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 471, "chemical_mass": 52567.0, "gene_names": "Acbd5l1;AABR07046657.1;Acbd5l1", "protein_name": "Acyl-CoA-binding domain-containing protein 5", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y5I3", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y5I3" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "A0A8I5Y5I3", "url": "https://www.uniprot.org/uniprotkb/A0A8I5Y5I3" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": 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"id": "0110845", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110845" } ], "weight": 0.0 }, { "disease_id": "DOID:0111873", "name": "photosensitive trichothiodystrophy 1", "description": "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32.", "url": "https://disease-ontology.org/term/DOID:0111873", "evidence": [ { "id": "0111873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111873" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11088", "name": "asphyxia neonatorum", "description": "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.", "url": "https://disease-ontology.org/term/DOID:11088", "evidence": [ { "id": "11088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11088" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID:2960", "name": "photosensitive trichothiodystrophy", "description": "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.", "url": "https://disease-ontology.org/term/DOID:2960", "evidence": [ { "id": "2960", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2960" } ], "weight": 0.0 }, { "disease_id": "DOID:2962", "name": "Cockayne syndrome", "description": "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.", "url": "https://disease-ontology.org/term/DOID:2962", "evidence": [ { "id": "2962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2962" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:37", "name": "skin disease", "description": "An integumentary system disease that is located_in skin.", "url": "https://disease-ontology.org/term/DOID:37", "evidence": [ { "id": "37", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:37" } ], "weight": 0.0 }, { "disease_id": "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.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "5'-3' DNA helicase activity", "id": "GO:0043139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043139", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides", "id": "GO:0016818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016818", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "MMXD complex", "id": "GO:0071817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071817", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "transcription factor TFIIH holo complex", "id": "GO:0005675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005675", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "transcription factor TFIID complex", "id": "GO:0005669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005669", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "transcription factor TFIIH core complex", "id": "GO:0000439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000439", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "CAK-ERCC2 complex", "id": "GO:0070516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070516", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "nucleotide-excision repair", "id": "GO:0006289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006289", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "hair cell differentiation", "id": "GO:0035315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035315", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "central nervous system myelin formation", "id": "GO:0032289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032289", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "erythrocyte maturation", "id": "GO:0043249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043249", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "hair follicle maturation", "id": "GO:0048820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048820", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6AH26", "url": "https://www.uniprot.org/uniprotkb/A0A8I6AH26" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": 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"axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "cellular response to topologically incorrect protein", "id": "GO:0035967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035967", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex disassembly", "id": "GO:0043242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043242", "evidence": [ 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"evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "Hsp90 deacetylation", "id": "GO:0070846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070846", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "tubulin deacetylation", "id": "GO:0090042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090042", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "negative regulation of protein acetylation", "id": "GO:1901984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901984", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": "GO:1905091", "url": 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stress", "id": "GO:1900409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900409", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "erythrocyte enucleation", "id": "GO:0043131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043131", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "negative regulation of aggrephagy", "id": "GO:1905336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905336", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "negative regulation of cellular component organization", "id": "GO:0051129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051129", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "ATPase inhibitor activity", "id": "GO:0042030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042030", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "misfolded protein binding", "id": "GO:0051787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051787", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "peroxidase inhibitor activity", "id": "GO:0036479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036479", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "tubulin deacetylase activity", "id": "GO:0042903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042903", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "A0A8I6GM68", "url": "https://www.uniprot.org/uniprotkb/A0A8I6GM68" } ], "pmid": "" }, { 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]