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"name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "gastrulation with mouth forming second", "id": "GO:0001702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001702", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "O70437", 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"https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "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": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell apoptotic process", "id": "GO:0010666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "formation of anatomical boundary", "id": "GO:0048859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048859", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation involved in heart valve morphogenesis", "id": "GO:0003251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003251", "evidence": [ { "database": "UniProtKB", "id": "O70437", "url": "https://www.uniprot.org/uniprotkb/O70437" } ], "pmid": "" }, { "name": "female gonad morphogenesis", "id": "GO:0061040", "url": 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"evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "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 }, { "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:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "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 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus.", "url": "https://disease-ontology.org/term/DOID:363", "evidence": [ { "id": "363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:363" } ], "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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "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 } ], "biological_process": [ { "name": "positive regulation of cell-cell adhesion", "id": "GO:0022409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022409", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "protein localization to plasma membrane raft", "id": "GO:0044860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044860", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "homotypic cell-cell adhesion", "id": "GO:0034109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034109", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cellular response to thyroxine stimulus", "id": "GO:0097069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097069", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cerebellar neuron development", "id": "GO:0098749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098749", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cell-cell adhesion mediated by integrin", "id": "GO:0033631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033631", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "maintenance of synapse structure", "id": "GO:0099558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099558", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "regulation of synapse assembly", "id": "GO:0051963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "axonal fasciculation", "id": "GO:0007413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007413", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "response to toluene", "id": "GO:1901424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901424", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q05695", "url": "https://www.uniprot.org/uniprotkb/Q05695" } ], 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"url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902254", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "mitochondrial fragmentation involved in apoptotic process", "id": "GO:0043653", "url": 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endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903382", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "mitochondrion to lysosome vesicle-mediated transport", "id": "GO:0099074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099074", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "free ubiquitin chain polymerization", "id": "GO:0010994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010994", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of actin filament bundle assembly", "id": "GO:0032232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032232", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein K27-linked ubiquitination", "id": "GO:0044314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044314", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of neurotransmitter uptake", "id": "GO:0051582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051582", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of protein linear polyubiquitination", "id": "GO:1902530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902530", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of exosomal secretion", "id": "GO:1903542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903542", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of intralumenal vesicle formation", "id": "GO:1905366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905366", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein K6-linked ubiquitination", "id": "GO:0085020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085020", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "cellular response to L-glutamate", "id": "GO:1905232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905232", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fusion", "id": "GO:0010637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010637", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of 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"pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "host-mediated suppression of viral genome replication", "id": "GO:0044828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044828", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of glucokinase activity", "id": "GO:0033132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033132", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "dopamine uptake involved in synaptic transmission", "id": "GO:0051583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051583", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "aggresome assembly", "id": "GO:0070842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070842", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of protein localization to membrane", "id": "GO:1905477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905477", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": "GO:1905091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905091", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "cellular response to hydrogen sulfide", "id": "GO:1904881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904881", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "regulation protein catabolic process at presynapse", "id": "GO:0140251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140251", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "negative regulation of intracellular signal transduction", "id": "GO:1902532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902532", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "regulation of anatomical structure morphogenesis", "id": "GO:0022603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022603", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of catabolic process", "id": "GO:0009896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009896", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "positive regulation of metabolic process", "id": "GO:0009893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009893", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "regulation of primary metabolic process", "id": "GO:0080090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080090", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "regulation of secretion by cell", "id": "GO:1903530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903530", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "Parkin-FBXW7-Cul1 ubiquitin ligase complex", "id": "GO:1990452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990452", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "intracellular vesicle", "id": "GO:0097708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097708", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "mitochondrion-derived vesicle", "id": "GO:0099073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099073", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", 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"evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": 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"https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9JK66", "url": "https://www.uniprot.org/uniprotkb/Q9JK66" } ], 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the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "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:12132", "name": "granulomatosis with polyangiitis", "description": "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels.", "url": "https://disease-ontology.org/term/DOID:12132", "evidence": [ { "id": "12132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12132" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "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:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12549", "name": "hepatitis A", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus (Hepatovirus ahepa), which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:12549", "evidence": [ { "id": "12549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12549" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "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:1394", "name": "urinary schistosomiasis", "description": "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer.", "url": "https://disease-ontology.org/term/DOID:1394", "evidence": [ { "id": "1394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1394" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "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:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2513", "name": "basal cell carcinoma", "description": "A skin carcinoma affecting basal cells.", "url": "https://disease-ontology.org/term/DOID:2513", "evidence": [ { "id": "2513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2513" } ], "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:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "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:718", "name": "autoimmune hemolytic anemia", "description": "A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies.", "url": "https://disease-ontology.org/term/DOID:718", "evidence": [ { "id": "718", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:718" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:7442", "name": "monoclonal gammopathy of uncertain significance", "description": "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood.", "url": "https://disease-ontology.org/term/DOID:7442", "evidence": [ { "id": "7442", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7442" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "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:9383", "name": "iridocyclitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9383", "evidence": [ { "id": "9383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9383" } ], "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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "biological_process": [ { "name": "membrane raft organization", "id": "GO:0031579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031579", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "peristalsis", "id": "GO:0030432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030432", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cellular response to brain-derived neurotrophic factor stimulus", "id": "GO:1990416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990416", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "tissue morphogenesis", "id": "GO:0048729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048729", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "membrane repolarization during ventricular cardiac muscle cell action potential", "id": "GO:0098915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098915", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of protein localization to synapse", "id": "GO:1902473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902473", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "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": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "protein localization to plasma 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"GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "amyloid precursor protein metabolic process", "id": "GO:0042982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "bicellular tight junction assembly", "id": "GO:0070830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070830", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "receptor clustering", "id": "GO:0043113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043113", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "protein-containing complex localization", "id": "GO:0031503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031503", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell action potential", "id": "GO:0098911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098911", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "receptor localization to synapse", "id": "GO:0097120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097120", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "negative regulation of p38MAPK cascade", "id": "GO:1903753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903753", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "immunological synapse formation", "id": "GO:0001771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001771", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "establishment or maintenance of epithelial cell apical/basal polarity", "id": "GO:0045197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045197", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "astral microtubule organization", "id": "GO:0030953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030953", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cortical microtubule organization", "id": "GO:0043622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043622", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "reproductive structure development", "id": "GO:0048608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048608", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "establishment of centrosome localization", "id": "GO:0051660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051660", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "hard palate development", "id": "GO:0060022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060022", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of potassium ion import", "id": "GO:1903286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903286", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of potassium ion export across plasma membrane", "id": "GO:1903764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903764", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0099645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099645", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "myelin sheath abaxonal region", "id": "GO:0035748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035748", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": "https://www.uniprot.org/uniprotkb/Q62696" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q62696", "url": 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"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 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "sodium:proton antiporter activity", "id": "GO:0015385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015385", "evidence": [ { "database": "UniProtKB", "id": "P26431", "url": "https://www.uniprot.org/uniprotkb/P26431" } ], "pmid": "" }, { "name": 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insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P26431", "url": "https://www.uniprot.org/uniprotkb/P26431" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P26431", "url": "https://www.uniprot.org/uniprotkb/P26431" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P26431", "url": "https://www.uniprot.org/uniprotkb/P26431" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P26431", "url": "https://www.uniprot.org/uniprotkb/P26431" } ], "pmid": 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[], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70377-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Thr102", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O70377", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70377" }, { "database": "PubMed", "id": "28784843", "url": "https://glygen.org/publication/PubMed/28784843" } ] } ] }, { "uniprot_canonical_ac": "O70377-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Ser110", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70377", "url": "https://www.uniprot.org/uniprotkb/O70377" } ] } ] }, { "uniprot_canonical_ac": "O70377-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/O70377" } ] } ] }, { "uniprot_canonical_ac": "O70377-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Ser23", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70377", "url": "https://www.uniprot.org/uniprotkb/O70377" } ] } ] }, { "uniprot_canonical_ac": "O70377-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Ser34", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70377", "url": "https://www.uniprot.org/uniprotkb/O70377" } ] } ] }, { "uniprot_canonical_ac": "O70377-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Ser5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70377", "url": "https://www.uniprot.org/uniprotkb/O70377" } ] } ] }, { "uniprot_canonical_ac": "O70377-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Ser95", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "O70377", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O70377" }, { "database": "PubMed", "id": "15611044", "url": "https://glygen.org/publication/PubMed/15611044" }, { "database": "PubMed", "id": "28784843", "url": "https://glygen.org/publication/PubMed/28784843" }, { "database": "PubMed", "id": "33213278", "url": "https://glygen.org/publication/PubMed/33213278" } ] } ] } ], "record_id": "O70377-1" }, { "uniprot_canonical_ac": "P02625-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 110, "chemical_mass": 11926.0, "gene_names": "Pvalb;PALB1;Pvalb;Pva", "protein_name": "Parvalbumin alpha", "disease": [], "biological_process": [ { "name": "excitatory chemical synaptic transmission", "id": "GO:0098976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098976", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "inhibitory chemical synaptic transmission", "id": "GO:0098977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098977", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "cuticular plate", "id": "GO:0032437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032437", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P02625-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P02625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02625" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Ser2", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P02625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02625" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ser66", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P02625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02625" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Ser8", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P02625", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02625" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Ser56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Increased Ca(2+)-binding affinity in the EF-hand 1 domain probably due to the orientation of mutant D-60 side chain, which is predicted to stabilize helix D; when associated with D-60. Behaves as wild-type with identical Na(+)-binding stoichiometry and increased Ca(2+) and Mg(2+) ion-binding affinity in K(+)-containing solution; when associated with D-60.", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "15287728", "url": "https://glygen.org/publication/PubMed/15287728" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Glu60", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Increased Ca(2+)-binding affinity in the EF-hand 1 domain probably due to the orientation of mutant D-60 side chain, which is predicted to stabilize helix D; when associated with D-56. Behaves as wild-type with identical Na(+)-binding stoichiometry and increased Ca(2+) and Mg(2+) ion-binding affinity in K(+)-containing solution; when associated with D-56.", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "15287728", "url": "https://glygen.org/publication/PubMed/15287728" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Arg76", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of salt bridge formation with E-81. No effect in the overall structure of the protein. However, more solvent-exposed AB loop, which consists of two antiparallel helices A and B, and higher flexibility of the AB loop compared to the wild-type structure. Lower thermal stability of the calcium-loaded form of the protein than that of the wild-type, but melting temperature (Tm) value still remains quite high. Unfolded apo form at room temperature. Weaker calcium- and, to a lesser extent, magnesium-binding affinities compared to the wild-type.", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "19622856", "url": "https://glygen.org/publication/PubMed/19622856" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Asp95", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "S", "comment": "Reduced Ca(2+)-binding affinity in the EF-hand 2 domain due to a substantial enthalpic penalty, the source of which may be steric interference between F-58 and C alpha atom of mutant E-99; when associated with E-99. No effect on the Ca(2+) or Mg(2+) ion-binding properties in either Na(+)- or K(+)-containing buffers indicating that the reduced affinity for divalent ions is not a result of heightened monovalent ion competition; when associated with E-99.", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "16101280", "url": "https://glygen.org/publication/PubMed/16101280" } ] } ] }, { "uniprot_canonical_ac": "P02625-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Gly99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Reduced Ca(2+)-binding affinity in the EF-hand 2 domain due to a substantial enthalpic penalty, the source of which may be steric interference between F-58 and C alpha atom of mutant E-99; when associated with S-95. No effect on the Ca(2+) or Mg(2+) ion-binding properties in either Na(+)- or K(+)-containing buffers indicating that the reduced affinity for divalent ions is not a result of heightened monovalent ion competition; when associated with S-95.", "evidence": [ { "database": "UniProtKB", "id": "P02625", "url": "https://www.uniprot.org/uniprotkb/P02625" }, { "database": "PubMed", "id": "16101280", "url": "https://glygen.org/publication/PubMed/16101280" } ] } ] } ], "record_id": "P02625-1" }, { "uniprot_canonical_ac": "P04094-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P04094", "url": "https://www.uniprot.org/uniprotkb/P04094" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 269, "chemical_mass": 30932.0, "gene_names": "Penk;Enk;Penk-rs;Penk1;Penk2;Penk", "protein_name": "Proenkephalin-A", "disease": [ { "disease_id": "DOID:0060564", "name": "spinal disease", "description": "A bone disease that is located_in the spine.", "url": "https://disease-ontology.org/term/DOID:0060564", "evidence": [ { "id": "0060564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060564" } ], "weight": 0.0 }, { "disease_id": "DOID:0070355", "name": "overactive bladder syndrome", "description": "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.", "url": "https://disease-ontology.org/term/DOID:0070355", "evidence": [ { "id": "0070355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070355" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:543", "name": "dystonia", "description": "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.", "url": "https://disease-ontology.org/term/DOID:543", "evidence": [ { "id": "543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:543" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1579", "name": "respiratory system disease", "description": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.", "url": "https://disease-ontology.org/term/DOID:1579", "evidence": [ { "id": "1579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1579" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in 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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "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: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", 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"glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 495, "chemical_mass": 56379.0, "gene_names": "Kcna1;Kcna1;Kcna;Kcpvd;Kv1.1", "protein_name": "Potassium voltage-gated channel subfamily A member 1", "disease": [ { "disease_id": "DOID:0050989", "name": "episodic ataxia type 1", "description": "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.", "url": "https://disease-ontology.org/term/DOID:0050989", "evidence": [ { "id": "0050989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050989" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016202", "evidence": [ { "database": "UniProtKB", "id": "P16636", "url": "https://www.uniprot.org/uniprotkb/P16636" } ], "pmid": "" }, { "name": "DNA biosynthetic process", "id": "GO:0071897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "P16636", "url": "https://www.uniprot.org/uniprotkb/P16636" } ], "pmid": "" }, { "name": "cellular response to chemokine", "id": "GO:1990869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990869", "evidence": [ { "database": "UniProtKB", "id": "P16636", "url": "https://www.uniprot.org/uniprotkb/P16636" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "P16636", "url": "https://www.uniprot.org/uniprotkb/P16636" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": 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Alters voltage-sensitive channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Impairs protein folding. Loss of tetramerization.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] }, { "sequence_org": "T", "sequence_mut": "V", "comment": "Abolishes interaction with KCNAB2 and strongly reduces cell surface expression. No effect phosphorylation in response to increased cAMP levels.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "18003609", "url": "https://glygen.org/publication/PubMed/18003609" } ] }, { "sequence_org": "T", "sequence_mut": "V", "comment": "No effect on tetramerization. Alters voltage-sensitive channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Gln47", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "No effect on channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Thr50", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Alters voltage-sensitive channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Asp70", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Arg73", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": 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"end_pos": "79", "site_lbl": "Asp79", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Alters voltage-sensitive channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Asn81", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "No effect on channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Arg82", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Loss of channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asp86", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Alters voltage-sensitive channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Leu89", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Tyr90", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "No effect on channel opening.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": "https://glygen.org/publication/PubMed/11007484" } ] } ] }, { "uniprot_canonical_ac": "P63142-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Gln93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "Loss of channel activity.", "evidence": [ { "database": "UniProtKB", "id": "P63142", "url": "https://www.uniprot.org/uniprotkb/P63142" }, { "database": "PubMed", "id": "11007484", "url": 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 123, "chemical_mass": 14356.0, "gene_names": "Kcne2;Kcne2;Mirp1", "protein_name": "Potassium voltage-gated channel subfamily E member 2", "disease": [ { "disease_id": "DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes.", "url": "https://disease-ontology.org/term/DOID:0050650", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0110648", "name": "long QT syndrome 6", "description": "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.", "url": "https://disease-ontology.org/term/DOID:0110648", "evidence": [ { "id": "0110648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110648" } ], "weight": 0.0 }, { "disease_id": "DOID:2843", "name": "long QT syndrome", "description": "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).", "url": "https://disease-ontology.org/term/DOID:2843", "evidence": [ { "id": "2843", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2843" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of potassium ion transmembrane transport", "id": "GO:1901379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901379", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "membrane repolarization during action potential", "id": "GO:0086011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086011", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "membrane repolarization during ventricular cardiac muscle cell action potential", "id": "GO:0098915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098915", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "negative regulation of voltage-gated potassium channel activity", "id": "GO:1903817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903817", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "regulation of membrane repolarization", "id": "GO:0060306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060306", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "iodide transport", "id": "GO:0015705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015705", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane repolarization", "id": "GO:0060307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060307", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell action potential", "id": "GO:0086005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086005", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "negative regulation of delayed rectifier potassium channel activity", "id": "GO:1902260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902260", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "membrane repolarization", "id": "GO:0086009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086009", "evidence": [ { "database": "UniProtKB", "id": "P63161", "url": "https://www.uniprot.org/uniprotkb/P63161" } ], "pmid": "" }, { "name": "potassium ion import across plasma membrane", "id": "GO:1990573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990573", "evidence": [ { "database": "UniProtKB", "id": "P63161", 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"https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "synaptic vesicle fusion to presynaptic active zone membrane", "id": "GO:0031629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031629", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "short-term synaptic potentiation", "id": "GO:1990926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990926", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "SNARE complex assembly", "id": "GO:0035493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035493", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "presynaptic dense core vesicle exocytosis", "id": "GO:0099525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099525", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "positive regulation of voltage-gated calcium channel activity", "id": "GO:1901387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901387", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070201", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "positive regulation of hormone secretion", "id": "GO:0046887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046887", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle cycle", "id": "GO:0098693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098693", "evidence": [ { "database": "UniProtKB", "id": "P60881", "url": "https://www.uniprot.org/uniprotkb/P60881" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", 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"common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 602, "chemical_mass": 66872.0, "gene_names": "Pex5l;Pex2;Pex5l;Pex5r;TRIP8b;Trip8b;Trjip8b", "protein_name": "PEX5-related protein", "disease": [ { "disease_id": "DOID:0080377", "name": "peroxisomal biogenesis disorder", "description": "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes.", "url": "https://disease-ontology.org/term/DOID:0080377", "evidence": [ { "id": "0080377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080377" } ], "weight": 0.0 }, { "disease_id": "DOID:0080477", "name": "peroxisome biogenesis disorder 2A", "description": "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.", "url": "https://disease-ontology.org/term/DOID:0080477", "evidence": [ { "id": "0080477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080477" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cell tip", "id": "GO:0051286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051286", "evidence": [ { "database": "UniProtKB", "id": "Q925N3", "url": "https://www.uniprot.org/uniprotkb/Q925N3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q925N3", "url": "https://www.uniprot.org/uniprotkb/Q925N3" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "Q925N3", "url": "https://www.uniprot.org/uniprotkb/Q925N3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q925N3", "url": "https://www.uniprot.org/uniprotkb/Q925N3" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": 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} ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "atrioventricular canal development", "id": "GO:0036302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036302", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "genitalia development", "id": "GO:0048806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048806", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": 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"https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "ephrin receptor signaling pathway", "id": "GO:0048013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048013", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion mediated by integrin", "id": "GO:0033629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033629", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "neurotrophin TRK receptor signaling pathway", "id": "GO:0048011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048011", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "regulation of protein-containing complex assembly", "id": "GO:0043254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043254", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "smooth muscle cell proliferation", "id": "GO:0048659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048659", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "regulation of protein export from nucleus", "id": "GO:0046825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046825", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of T cell receptor signaling pathway", "id": "GO:0050860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050860", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050868", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "negative regulation of cortisol secretion", "id": "GO:0051463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051463", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "intestinal epithelial cell migration", "id": "GO:0061582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061582", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "cerebellar cortex formation", "id": "GO:0021697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021697", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031666", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, { "name": "cellular response to insulin-like growth factor stimulus", "id": "GO:1990314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990314", "evidence": [ { "database": "UniProtKB", "id": "P41499", "url": "https://www.uniprot.org/uniprotkb/P41499" } ], "pmid": "" }, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140831", "evidence": [ { "database": "UniProtKB", "id": "Q9JHZ9", "url": "https://www.uniprot.org/uniprotkb/Q9JHZ9" } ], "pmid": "" }, { "name": "L-histidine, sodium:proton antiporter activity", "id": "GO:0140832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140832", "evidence": [ { "database": "UniProtKB", "id": "Q9JHZ9", "url": "https://www.uniprot.org/uniprotkb/Q9JHZ9" } ], "pmid": "" } ], "biological_process": [ { "name": "asparagine transmembrane transport", "id": "GO:1903713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903713", "evidence": [ { "database": "UniProtKB", "id": "Q9JHZ9", "url": "https://www.uniprot.org/uniprotkb/Q9JHZ9" } ], "pmid": "" }, { "name": "cellular response to potassium ion starvation", "id": "GO:0051365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051365", "evidence": [ { "database": "UniProtKB", "id": "Q9JHZ9", "url": "https://www.uniprot.org/uniprotkb/Q9JHZ9" } ], "pmid": "" }, { "name": "positive 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "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: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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:559", "name": "acute pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:559", "evidence": [ { "id": "559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:559" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. 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"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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "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": "embryonic retina morphogenesis in camera-type eye", "id": "GO:0060059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060059", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": 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"url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "maintenance of gastrointestinal epithelium", "id": "GO:0030277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030277", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "retinol metabolic process", "id": "GO:0042572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042572", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "retinal metabolic process", "id": "GO:0042574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042574", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "heart trabecula formation", "id": "GO:0060347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "vagina development", "id": "GO:0060068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060068", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell proliferation", "id": "GO:0060044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060044", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "retinol transport", "id": "GO:0034633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034633", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "embryonic organ morphogenesis", "id": "GO:0048562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048562", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "female genitalia morphogenesis", "id": "GO:0048807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048807", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "positive regulation of immunoglobulin production", "id": "GO:0002639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002639", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "urinary bladder development", "id": "GO:0060157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060157", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "vitamin A import into cell", "id": "GO:0071939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071939", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" } ], "molecular_function": [ { "name": "retinol binding", "id": "GO:0019841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019841", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": "https://www.uniprot.org/uniprotkb/P04916" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", "evidence": [ { "database": "UniProtKB", "id": "P04916", "url": 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"evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ], "pmid": "" }, { "name": "plasma 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"", "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": 183, "start_aa": "Thr", "end_pos": 183, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr183", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "P29066-1", "start_pos": "412", "end_pos": "412", "site_lbl": "Ser412", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "PubMed", "id": "9388255", "url": 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"comment": "Impairs interaction with SRC; impairs ADRB2-mediated ERK phosphorylation and IGFR1-mediated MAP kinase phosphorylation of GAB1; impairs sequestration of ADRB2 and IGFR1; abolishes interaction with clathrin; no effect on interaction with ADRB2 and IGFR1.", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" }, { "database": "PubMed", "id": "9924018", "url": "https://glygen.org/publication/PubMed/9924018" }, { "database": "PubMed", "id": "9822622", "url": "https://glygen.org/publication/PubMed/9822622" }, { "database": "PubMed", "id": "9388255", "url": "https://glygen.org/publication/PubMed/9388255" } ] } ] }, { "uniprot_canonical_ac": "P29066-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Tyr47", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" } ] } ] }, { "uniprot_canonical_ac": "P29066-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Pro121", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "E", "comment": "Impairs interaction with SRC; impairs ADRB2- and HTR1A-mediated ERK phosphorylation; no effect on sequestration of ADRB2; when associated with G-91.", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" }, { "database": "PubMed", "id": "9924018", "url": "https://glygen.org/publication/PubMed/9924018" } ] } ] }, { "uniprot_canonical_ac": "P29066-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Val53", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Inhibits internalization of EDNRA, EDNRB and ADRB2. No effect on interaction with SRC; impairs ADRB2- and HTR1A-mediated ERK phosphorylation; impairs sequestration of ADRB2.", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" }, { "database": "PubMed", "id": "8553074", "url": "https://glygen.org/publication/PubMed/8553074" }, { "database": "PubMed", "id": "9924018", "url": "https://glygen.org/publication/PubMed/9924018" }, { "database": "PubMed", "id": "10747877", "url": "https://glygen.org/publication/PubMed/10747877" } ] } ] }, { "uniprot_canonical_ac": "P29066-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Pro91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "G", "comment": "Impairs interaction with SRC; impairs ADRB2- and HTR1A-mediated ERK phosphorylation; no effect on sequestration of ADRB2; when associated with E-121.", "evidence": [ { "database": "UniProtKB", "id": "P29066", "url": "https://www.uniprot.org/uniprotkb/P29066" }, { "database": 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"" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P31044", "url": "https://www.uniprot.org/uniprotkb/P31044" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P31044", "url": "https://www.uniprot.org/uniprotkb/P31044" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "P31044", "url": "https://www.uniprot.org/uniprotkb/P31044" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "P31044", "url": "https://www.uniprot.org/uniprotkb/P31044" } ], "pmid": "" }, { "name": "regulation of the force of 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060131", "name": "alexithymia", "description": "An agnosia that is a deficiency in understanding, processing, or describing emotions.", "url": "https://disease-ontology.org/term/DOID:0060131", "evidence": [ { "id": "0060131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060131" } ], "weight": 0.0 }, { "disease_id": "DOID:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "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 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "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:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning.", "url": "https://disease-ontology.org/term/DOID:302", "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "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:7475", "name": "diverticulitis", "description": "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall.", "url": "https://disease-ontology.org/term/DOID:7475", "evidence": [ { "id": "7475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7475" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:9007", "name": "sudden infant death syndrome", "description": "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation.", "url": "https://disease-ontology.org/term/DOID:9007", "evidence": [ { "id": "9007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9007" } ], "weight": 0.0 }, { "disease_id": "DOID:9065", "name": "leishmaniasis", "description": "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae).", "url": "https://disease-ontology.org/term/DOID:9065", "evidence": [ { "id": "9065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9065" } ], "weight": 0.0 }, { "disease_id": "DOID:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "neurotransmitter transmembrane transporter activity", "id": "GO:0005326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005326", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "serotonin binding", "id": "GO:0051378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051378", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "monoamine transmembrane transporter activity", "id": "GO:0008504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008504", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "serotonin:sodium:chloride symporter activity", "id": "GO:0005335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005335", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "cocaine binding", "id": "GO:0019811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019811", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "sodium ion binding", "id": "GO:0031402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031402", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" }, { "name": "syntaxin-1 binding", "id": "GO:0017075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017075", "evidence": [ { "database": "UniProtKB", "id": "P31652", "url": "https://www.uniprot.org/uniprotkb/P31652" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of organ growth", "id": "GO:0046621", "url": 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"" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "D4A138", "url": "https://www.uniprot.org/uniprotkb/D4A138" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "D4A138", "url": "https://www.uniprot.org/uniprotkb/D4A138" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "D4A138", "url": "https://www.uniprot.org/uniprotkb/D4A138" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A138-1" }, { "uniprot_canonical_ac": "D4A164-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A164", "url": 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"id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D4A8F5", "url": "https://www.uniprot.org/uniprotkb/D4A8F5" } ], "pmid": "" } ], "molecular_function": [ { "name": "carboxylic ester hydrolase activity", "id": "GO:0052689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052689", "evidence": [ { "database": "UniProtKB", "id": "D4A8F5", "url": "https://www.uniprot.org/uniprotkb/D4A8F5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A8F5-1" }, { "uniprot_canonical_ac": "D4A8I9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A8I9", "url": "https://www.uniprot.org/uniprotkb/D4A8I9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 144, "chemical_mass": 16009.0, "gene_names": "Il9;Il9", "protein_name": "", "disease": [ { "disease_id": "DOID:0080600", 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "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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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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"" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "D4A8Q3", "url": "https://www.uniprot.org/uniprotkb/D4A8Q3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A8Q3-1" }, { "uniprot_canonical_ac": "D4A8X8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A8X8", "url": "https://www.uniprot.org/uniprotkb/D4A8X8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 638, "chemical_mass": 70076.0, "gene_names": "Cttnbp2nl;Cttnbp2nl;RGD1310822", "protein_name": "", "disease": [], "biological_process": [ { "name": "protein localization to actin cytoskeleton", "id": "GO:1903119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903119", "evidence": [ { "database": "UniProtKB", "id": "D4A8X8", 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COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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"peptidoglycan binding", "id": "GO:0042834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042834", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": 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"evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" }, { "name": "canonical inflammasome complex", "id": "GO:0061702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061702", "evidence": [ { "database": "UniProtKB", "id": "D4ADT7", "url": "https://www.uniprot.org/uniprotkb/D4ADT7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4ADT7-1" }, { "uniprot_canonical_ac": "D4ADU7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4ADU7", "url": "https://www.uniprot.org/uniprotkb/D4ADU7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 255, "chemical_mass": 28552.0, "gene_names": "Eef1akmt4;Eef1akmt4;LOC102551435", "protein_name": "EEF1A lysine methyltransferase 4", "disease": [], "molecular_function": [ { "name": "methyltransferase activity", "id": "GO:0008168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008168", "evidence": [ { "database": "UniProtKB", "id": "D4ADU7", "url": "https://www.uniprot.org/uniprotkb/D4ADU7" } ], "pmid": "" }, { "name": "protein-lysine N-methyltransferase activity", "id": "GO:0016279", "url": 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"id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D4AE36", "url": "https://www.uniprot.org/uniprotkb/D4AE36" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "D4AE36", "url": "https://www.uniprot.org/uniprotkb/D4AE36" } ], "pmid": "" } ], "molecular_function": [ { "name": "acetylcholine receptor binding", "id": "GO:0033130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033130", "evidence": [ { "database": "UniProtKB", "id": "D4AE36", "url": "https://www.uniprot.org/uniprotkb/D4AE36" } ], "pmid": "" }, { "name": "acetylcholine receptor inhibitor activity", "id": "GO:0030550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030550", "evidence": [ { "database": "UniProtKB", "id": "D4AE36", "url": "https://www.uniprot.org/uniprotkb/D4AE36" } ], "pmid": "" } ], "biological_process": [ { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "D4AE36", "url": "https://www.uniprot.org/uniprotkb/D4AE36" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4AE36-1" }, { "uniprot_canonical_ac": "D4AE56-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AE56", "url": "https://www.uniprot.org/uniprotkb/D4AE56" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 392, "chemical_mass": 44471.0, "gene_names": "Ptges2", "protein_name": "Prostaglandin E synthase 2", "disease": [], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "D4AE56", "url": "https://www.uniprot.org/uniprotkb/D4AE56" } 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"name": "negative regulation of translational initiation", "id": "GO:0045947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045947", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "response to amino acid starvation", "id": "GO:1990928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990928", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "regulation of translational initiation", "id": "GO:0006446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006446", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "negative regulation of translational initiation in response to stress", "id": "GO:0032057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032057", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "viral translation", "id": "GO:0019081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019081", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "positive regulation of translational initiation in response to starvation", "id": "GO:0071264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071264", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "host-mediated suppression of viral genome replication", "id": "GO:0044828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044828", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "regulation of translational initiation in response to stress", "id": "GO:0043558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043558", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "regulation of translational initiation by eIF2 alpha phosphorylation", "id": "GO:0010998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010998", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "GCN2-mediated signaling", "id": "GO:0140469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140469", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "regulation of cytoplasmic translational initiation in response to stress", "id": "GO:1990611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990611", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D4A7V9-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ] } ] }, { "uniprot_canonical_ac": "D4A7V9-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Thr667", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": 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"UniProtKB", "id": "D4A7V9", "url": "https://www.uniprot.org/uniprotkb/D4A7V9" } ] } ] } ], "record_id": "D4A7V9-1" }, { "uniprot_canonical_ac": "O35303-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O35303", "url": "https://www.uniprot.org/uniprotkb/O35303" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 755, "chemical_mass": 83908.0, "gene_names": "Dnm1l;DLP1;Dlp1;Dnm1l;Dnml1;Drp1", "protein_name": "Dynamin-1-like protein", "disease": [ { "disease_id": "DOID:0070347", "name": "encephalopathy due to defective mitochondrial and peroxisomal fission 1", "description": "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.", "url": "https://disease-ontology.org/term/DOID:0070347", "evidence": [ { "id": "0070347", 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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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13711", "name": "dental fluorosis", "description": "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during 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It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. 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female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:3458", "name": "breast adenocarcinoma", "description": "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast.", "url": "https://disease-ontology.org/term/DOID:3458", "evidence": [ { "id": "3458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3458" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": 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"evidence": [ { "database": "UniProtKB", "id": "O54952", "url": "https://www.uniprot.org/uniprotkb/O54952" } ], "pmid": "" }, { "name": "negative regulation of reactive oxygen species metabolic process", "id": "GO:2000378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000378", "evidence": [ { "database": "UniProtKB", "id": "O54952", "url": "https://www.uniprot.org/uniprotkb/O54952" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "O54952", "url": "https://www.uniprot.org/uniprotkb/O54952" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "O54952", "url": "https://www.uniprot.org/uniprotkb/O54952" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": 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Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.", "url": "https://disease-ontology.org/term/DOID:0060341", "evidence": [ { "id": "0060341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060341" } ], "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. 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"https://www.uniprot.org/uniprotkb/F1MAQ4" } ], "pmid": "" } ], "cellular_component": [ { "name": "TRAPPII protein complex", "id": "GO:1990071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990071", "evidence": [ { "database": "UniProtKB", "id": "F1MAQ4", "url": "https://www.uniprot.org/uniprotkb/F1MAQ4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "F1MAQ4", "url": "https://www.uniprot.org/uniprotkb/F1MAQ4" } ], "pmid": "" }, { "name": "TRAPP complex", "id": "GO:0030008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030008", "evidence": [ { "database": "UniProtKB", "id": "F1MAQ4", "url": "https://www.uniprot.org/uniprotkb/F1MAQ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1MAQ4-1" }, { "uniprot_canonical_ac": "Q6AYD5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 636, "chemical_mass": 68752.0, "gene_names": "Gspt1;Gspt1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "translation release factor activity", "id": "GO:0003747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003747", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "translation release factor complex", "id": "GO:0018444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018444", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "cytosolic ribosome", "id": "GO:0022626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022626", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" } ], "biological_process": [ { "name": "translational termination", "id": "GO:0006415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006415", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "regulation of translational termination", "id": "GO:0006449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006449", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "id": "GO:0000184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000184", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "translation", "id": "GO:0006412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006412", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q6AYD5", "url": "https://www.uniprot.org/uniprotkb/Q6AYD5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6AYD5-1" }, { "uniprot_canonical_ac": "Q3KR55-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 239, "chemical_mass": 27815.0, "gene_names": "U2af1;LOC687575;U2af1", "protein_name": "", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "RS domain binding", "id": "GO:0050733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050733", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "pre-mRNA 3'-splice site binding", "id": "GO:0030628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030628", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" } ], "cellular_component": [ { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "U2AF complex", "id": "GO:0089701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089701", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q3KR55", "url": "https://www.uniprot.org/uniprotkb/Q3KR55" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3KR55-1" }, { "uniprot_canonical_ac": "D4A5X1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 809, "chemical_mass": 89933.0, "gene_names": "Stim2", "protein_name": "", "disease": [ { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "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 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "store-operated calcium channel activity", "id": "GO:0015279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015279", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "store-operated calcium entry", "id": "GO:0002115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002115", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "regulation of transport", "id": "GO:0051049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051049", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "activation of store-operated calcium channel activity", "id": "GO:0032237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032237", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "D4A5X1", "url": "https://www.uniprot.org/uniprotkb/D4A5X1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A5X1-1" }, { "uniprot_canonical_ac": "G3V779-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V779", "url": "https://www.uniprot.org/uniprotkb/G3V779" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 555, "chemical_mass": 60997.0, "gene_names": "Lad1;LOC120102904", "protein_name": "", "disease": [], "molecular_function": [ { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "G3V779", "url": "https://www.uniprot.org/uniprotkb/G3V779" } ], "pmid": "" } ], "cellular_component": [ { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "G3V779", "url": "https://www.uniprot.org/uniprotkb/G3V779" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "G3V779", "url": "https://www.uniprot.org/uniprotkb/G3V779" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V779-1" }, { "uniprot_canonical_ac": "F1M6Q1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 457, "chemical_mass": 50284.0, "gene_names": "Schip1;Schip1", "protein_name": "", "disease": [], "biological_process": [ { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "F1M6Q1", "url": "https://www.uniprot.org/uniprotkb/F1M6Q1" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": 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"name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "F1LNH2", "url": "https://www.uniprot.org/uniprotkb/F1LNH2" } ], "pmid": "" }, { "name": "antigen receptor-mediated signaling pathway", "id": "GO:0050851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050851", "evidence": [ { "database": "UniProtKB", "id": "F1LNH2", "url": "https://www.uniprot.org/uniprotkb/F1LNH2" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "F1LNH2", "url": "https://www.uniprot.org/uniprotkb/F1LNH2" } ], "pmid": "" }, { "name": "regulation of B cell receptor signaling pathway", "id": "GO:0050855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050855", "evidence": [ { "database": "UniProtKB", "id": "F1LNH2", "url": "https://www.uniprot.org/uniprotkb/F1LNH2" } ], 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"name": "photoreceptor ribbon synapse", "id": "GO:0098684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098684", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" }, { "name": "retrograde trans-synaptic signaling by trans-synaptic protein complex", "id": "GO:0098942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098942", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" }, { "name": "response to denervation involved in regulation of muscle adaptation", "id": "GO:0014894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014894", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "F1M8K0", "url": "https://www.uniprot.org/uniprotkb/F1M8K0" } ], "pmid": "" }, { "name": "positive regulation 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. 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"https://disease-ontology.org/term/DOID:0070114", "evidence": [ { "id": "0070114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070114" } ], "weight": 0.0 }, { "disease_id": "DOID:14504", "name": "Niemann-Pick disease", "description": "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.", "url": "https://disease-ontology.org/term/DOID:14504", "evidence": [ { "id": "14504", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14504" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intracellular sterol transport", "id": "GO:0032366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032366", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "cholesterol storage", "id": "GO:0010878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010878", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "lysosome to ER cholesterol transport", "id": "GO:0090120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090120", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "F7FJQ3", "url": "https://www.uniprot.org/uniprotkb/F7FJQ3" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": 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"database": "UniProtKB", "id": "G3V634", "url": "https://www.uniprot.org/uniprotkb/G3V634" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "G3V634", "url": "https://www.uniprot.org/uniprotkb/G3V634" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "G3V634", "url": "https://www.uniprot.org/uniprotkb/G3V634" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V634", "url": "https://www.uniprot.org/uniprotkb/G3V634" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": 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"id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "positive regulation of cell cycle G1/S phase transition", "id": "GO:1902808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902808", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "regulation of osteoblast differentiation", "id": "GO:0045667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045667", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "RNA polymerase II transcription 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"id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" }, { "name": "GLI-SUFU complex", "id": "GO:1990788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990788", "evidence": [ { "database": "UniProtKB", "id": "G3V6X8", "url": "https://www.uniprot.org/uniprotkb/G3V6X8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G3V6X8-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Thr603", "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": 603, "start_aa": "Thr", "end_pos": 603, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr603", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "G3V6X8-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Thr774", "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": 774, "start_aa": "Thr", "end_pos": 774, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr774", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "G3V6X8-1" }, { "uniprot_canonical_ac": "G3V707-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": 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This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": 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"DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "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), 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0014075", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "response to fructose", "id": "GO:0009750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009750", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "G3V707", "url": "https://www.uniprot.org/uniprotkb/G3V707" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0046530", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "complement activation, alternative pathway", "id": "GO:0006957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006957", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "organ or tissue specific immune response", "id": "GO:0002251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002251", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "inflammatory response to wounding", "id": "GO:0090594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090594", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "regulation of complement-dependent cytotoxicity", "id": "GO:1903659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903659", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "activation of membrane attack complex", "id": "GO:0001905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001905", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "mitochondrial gene expression", "id": "GO:0140053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140053", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "regulation of complement activation, alternative pathway", "id": "GO:0030451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030451", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "G3V9R2", "url": "https://www.uniprot.org/uniprotkb/G3V9R2" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": 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"common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 577, "chemical_mass": 61845.0, "gene_names": "Thbd;Thbd", "protein_name": "Thrombomodulin", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.", "url": "https://disease-ontology.org/term/DOID:0080301", "evidence": [ { "id": "0080301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ], "weight": 0.0 }, { "disease_id": "DOID:0111908", "name": "thrombophilia due to thrombomodulin defect", "description": "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21.", "url": "https://disease-ontology.org/term/DOID:0111908", "evidence": [ { "id": "0111908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111908" } ], "weight": 0.0 }, { "disease_id": "DOID:0112313", "name": "brain 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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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "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:3410", "name": "carotid artery thrombosis", "description": "", "url": "https://disease-ontology.org/term/DOID:3410", "evidence": [ { "id": "3410", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3410" } ], "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: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:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "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. 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"https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "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 } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "O35370", "url": "https://www.uniprot.org/uniprotkb/O35370" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "O35370", "url": "https://www.uniprot.org/uniprotkb/O35370" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O35370", "url": "https://www.uniprot.org/uniprotkb/O35370" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O35370", "url": "https://www.uniprot.org/uniprotkb/O35370" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": 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"" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q66H79", "url": "https://www.uniprot.org/uniprotkb/Q66H79" } ], "pmid": "" }, { "name": "positive regulation of striated muscle cell differentiation", "id": "GO:0051155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051155", "evidence": [ { "database": "UniProtKB", "id": "Q66H79", "url": "https://www.uniprot.org/uniprotkb/Q66H79" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q66H79", "url": "https://www.uniprot.org/uniprotkb/Q66H79" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q66H79", "url": 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and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. 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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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": 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{ "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "Q8K4B1", "url": "https://www.uniprot.org/uniprotkb/Q8K4B1" } ], "pmid": "" }, { "name": "CXCR3 chemokine receptor binding", "id": "GO:0048248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048248", "evidence": [ { 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"Q8R430-1" }, { "uniprot_canonical_ac": "Q8R5L9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 245, "chemical_mass": 27150.0, "gene_names": "Fgf3;Fgf3;Fgf5c;Int2", "protein_name": "Fibroblast growth factor", "disease": [ { "disease_id": "DOID:0080425", "name": "developmental and epileptic encephalopathy 47", "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.", "url": "https://disease-ontology.org/term/DOID:0080425", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ], "weight": 0.0 } ], "biological_process": [ { "name": "organ induction", "id": "GO:0001759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "semicircular canal morphogenesis", "id": "GO:0048752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048752", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle tissue development", "id": "GO:0055026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055026", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor signaling pathway", "id": "GO:0008543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008543", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "post-anal tail morphogenesis", "id": "GO:0036342", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036342", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L9", "url": "https://www.uniprot.org/uniprotkb/Q8R5L9" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "Q99N74", "url": "https://www.uniprot.org/uniprotkb/Q99N74" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q99N74", "url": "https://www.uniprot.org/uniprotkb/Q99N74" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "Q99N74", "url": "https://www.uniprot.org/uniprotkb/Q99N74" } ], "pmid": "" } ], "molecular_function": [ { "name": "aspartic-type endopeptidase activity", "id": "GO:0004190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004190", "evidence": [ { "database": "UniProtKB", "id": "Q99N74", "url": "https://www.uniprot.org/uniprotkb/Q99N74" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99N74-1" }, { "uniprot_canonical_ac": "Q9ERL1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 570, "chemical_mass": 65372.0, "gene_names": "Cybb;Cybb;Gp91-phox;Nox2", "protein_name": "NADPH oxidase 2", "disease": [ { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0070195", "name": "X-linked chronic granulomatous disease", "description": "A chronic granulomatous disease 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"evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "monoatomic ion channel complex", "id": "GO:0034702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034702", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", 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"Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "response to aldosterone", "id": "GO:1904044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904044", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "cellular response to L-glutamine", "id": "GO:1904845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904845", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "respiratory burst", "id": "GO:0045730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045730", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": 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"https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "NAD(P)H oxidase H2O2-forming activity", "id": "GO:0016174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016174", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "superoxide-generating NAD(P)H oxidase activity", "id": "GO:0016175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016175", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" }, { "name": "superoxide-generating NADPH oxidase activity", "id": "GO:0106292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106292", "evidence": [ { "database": "UniProtKB", "id": "Q9ERL1", "url": "https://www.uniprot.org/uniprotkb/Q9ERL1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9ERL1-1" }, { "uniprot_canonical_ac": "Q9ET45-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9ET45", "url": "https://www.uniprot.org/uniprotkb/Q9ET45" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 187, "chemical_mass": 20978.0, "gene_names": "Bnip3;Bnip3", "protein_name": "", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", 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"https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability.", "url": "https://disease-ontology.org/term/DOID:1184", "evidence": [ { "id": "1184", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "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:1920", "name": "hyperuricemia", "description": "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.", "url": "https://disease-ontology.org/term/DOID:1920", "evidence": [ { "id": "1920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1920" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3145", "name": "hyperlipoproteinemia type III", "description": "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:3145", "evidence": [ { "id": "3145", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3145" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "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:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "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:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:4423", "name": "sea-blue histiocytosis", "description": "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids.", "url": "https://disease-ontology.org/term/DOID:4423", "evidence": [ { "id": "4423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4423" } ], "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:4606", "name": "bile duct cancer", "description": "A biliary tract cancer that is located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4606", "evidence": [ { "id": "4606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4606" } ], "weight": 0.0 }, { "disease_id": "DOID:5679", "name": "retinal disease", "description": "An eye disease that is located_in the retina.", "url": "https://disease-ontology.org/term/DOID:5679", "evidence": [ { "id": "5679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5679" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "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": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "regulation of plasma lipoprotein particle levels", "id": "GO:0097006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097006", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "cholesterol metabolic 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"id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of membrane 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regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of triglyceride metabolic process", "id": "GO:0090209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090209", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "regulation of amyloid fibril formation", "id": "GO:1905906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905906", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "regulation of amyloid precursor protein catabolic process", "id": "GO:1902991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902991", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "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": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "low-density lipoprotein particle remodeling", "id": "GO:0034374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034374", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "amyloid precursor protein metabolic process", "id": "GO:0042982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042982", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "cellular response to growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "regulation of Cdc42 protein signal transduction", "id": "GO:0032489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032489", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of blood vessel endothelial cell migration", "id": "GO:0043537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043537", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "high-density lipoprotein particle assembly", "id": "GO:0034380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034380", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of phospholipid efflux", "id": "GO:1902995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902995", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "cholesterol catabolic process", "id": "GO:0006707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006707", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010642", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "melanosome organization", "id": "GO:0032438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032438", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", 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"P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "lipid transporter activity", "id": "GO:0005319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005319", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": 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"https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": "https://www.uniprot.org/uniprotkb/P02650" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "P02650", "url": 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"epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { 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"pmid": "" }, { "name": "cellular response to morphine", "id": "GO:0071315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071315", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "regulation of epithelial cell migration", "id": "GO:0010632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010632", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "central nervous system neuron axonogenesis", "id": "GO:0021955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021955", "evidence": [ { "database": 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chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "negative regulation of synapse assembly", "id": "GO:0051964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051964", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic actin cytoskeleton", "id": "GO:1905274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905274", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "positive regulation of macrophage proliferation", "id": "GO:0120041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120041", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "regulation of multicellular organismal process", "id": "GO:0051239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051239", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "O35346", "url": "https://www.uniprot.org/uniprotkb/O35346" } ], "pmid": "" }, 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"M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "presynaptic actin cytoskeleton", "id": "GO:0099143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099143", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "actin filament polymerization", "id": "GO:0030041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" }, { "name": "regulation of postsynapse assembly", "id": "GO:0150052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150052", "evidence": [ { "database": "UniProtKB", "id": "M0R3K6", "url": "https://www.uniprot.org/uniprotkb/M0R3K6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "M0R3K6-1" }, { "uniprot_canonical_ac": "O35132-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O35132", "url": "https://www.uniprot.org/uniprotkb/O35132" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 501, "chemical_mass": 55369.0, "gene_names": "Cyp27b1;Cyp27b1;Cyp27b;Cyp40", "protein_name": "25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial", "disease": [ { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:0080886", "name": "vitamin D-dependent rickets type 1A", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0080886", "evidence": [ { "id": "0080886", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080886" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10609", "name": "rickets", "description": "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", 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secondary to selenium deficiency.", "url": "https://disease-ontology.org/term/DOID:0050083", "evidence": [ { "id": "0050083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050083" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10892", "name": "hypospadias", "description": "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.", "url": "https://disease-ontology.org/term/DOID:10892", "evidence": [ { "id": "10892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10892" } ], "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:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "weight": 0.0 }, { "disease_id": "DOID:11836", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.", "url": "https://disease-ontology.org/term/DOID:11836", "evidence": [ { "id": "11836", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11836" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx.", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "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:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "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:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "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: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: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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "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:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "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: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 } ], "biological_process": [ { "name": "lipid hydroxylation", "id": "GO:0002933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002933", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "nitric oxide metabolic process", "id": "GO:0046209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046209", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "response to Aroclor 1254", "id": "GO:1904010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904010", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "response to 3-methylcholanthrene", "id": "GO:1904681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904681", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P00185", "url": "https://www.uniprot.org/uniprotkb/P00185" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": 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which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11049", "name": "meconium aspiration syndrome", "description": "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery.", "url": "https://disease-ontology.org/term/DOID:11049", "evidence": [ { "id": "11049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11049" } ], "weight": 0.0 }, { "disease_id": "DOID:11111", "name": "hydronephrosis", "description": "An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine.", "url": "https://disease-ontology.org/term/DOID:11111", "evidence": [ { "id": "11111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11111" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11716", "name": "prediabetes syndrome", "description": "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes.", "url": "https://disease-ontology.org/term/DOID:11716", "evidence": [ { "id": "11716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11716" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1205", "name": "allergic disease", "description": "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.", "url": "https://disease-ontology.org/term/DOID:1205", "evidence": [ { "id": "1205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1205" } ], "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:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID:13884", "name": "sick sinus syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13884", "evidence": [ { "id": "13884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13884" } ], "weight": 0.0 }, { "disease_id": "DOID:14499", "name": "Fabry disease", "description": "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.", "url": "https://disease-ontology.org/term/DOID:14499", "evidence": [ { "id": "14499", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14499" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "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:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "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:6713", "name": "cerebrovascular disease", "description": "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain.", "url": "https://disease-ontology.org/term/DOID:6713", "evidence": [ { "id": "6713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6713" } ], "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:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "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 }, { "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": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "peristalsis", "id": "GO:0030432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030432", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "operant conditioning", "id": "GO:0035106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035106", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "ovarian follicle rupture", "id": "GO:0001543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001543", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of norepinephrine secretion", "id": "GO:0010701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010701", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "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": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion 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"P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { 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"GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of fatty acid biosynthetic process", "id": "GO:0045723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045723", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "P01015", "url": "https://www.uniprot.org/uniprotkb/P01015" } ], "pmid": "" }, 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"plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q1KMU0", "url": "https://www.uniprot.org/uniprotkb/Q1KMU0" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q1KMU0", "url": "https://www.uniprot.org/uniprotkb/Q1KMU0" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "Q1KMU0", "url": "https://www.uniprot.org/uniprotkb/Q1KMU0" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q1KMU0", "url": "https://www.uniprot.org/uniprotkb/Q1KMU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q1KMU0", "url": "https://www.uniprot.org/uniprotkb/Q1KMU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q1KMU0-1" }, { "uniprot_canonical_ac": "P06759-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 101, "chemical_mass": 11117.0, "gene_names": "Apoc3", "protein_name": "Apolipoprotein C-III", "disease": [ { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": 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"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: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:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:2972", "name": "renal artery obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:2972", "evidence": [ { "id": "2972", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2972" } ], "weight": 0.0 }, { "disease_id": "DOID:3145", "name": "hyperlipoproteinemia type III", "description": "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:3145", "evidence": [ { "id": "3145", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3145" } ], "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 }, { 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"https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" }, { "name": "intermediate-density lipoprotein particle", "id": "GO:0034363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034363", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" }, { "name": "spherical high-density lipoprotein particle", "id": "GO:0034366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034366", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" } ], "biological_process": [ { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P06759", "url": "https://www.uniprot.org/uniprotkb/P06759" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": 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"id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal 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"5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated 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"https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "macrophage colony-stimulating factor receptor activity", "id": "GO:0005011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005011", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", 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"database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" } ], "biological_process": [ { "name": "forebrain neuron differentiation", "id": "GO:0021879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021879", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "macrophage colony-stimulating factor signaling pathway", "id": "GO:0038145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038145", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "regulation of bone resorption", "id": "GO:0045124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045124", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of macrophage migration", "id": "GO:1905523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905523", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "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": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "microglia development", "id": "GO:0014005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014005", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of protein tyrosine kinase activity", "id": "GO:0061098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061098", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of astrocyte activation", "id": "GO:0061890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061890", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "ruffle organization", "id": "GO:0031529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031529", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "positive regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "Q00495", "url": "https://www.uniprot.org/uniprotkb/Q00495" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": 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"database": "UniProtKB", "id": "P10067", "url": "https://www.uniprot.org/uniprotkb/P10067" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P10067-1" }, { "uniprot_canonical_ac": "Q4V8K2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 563, "chemical_mass": 64948.0, "gene_names": "Ctnnbl1;Ctnnbl1", "protein_name": "Beta-catenin-like protein 1", "disease": [ { "disease_id": "DOID:0061069", "name": "immunodeficiency 99", "description": "A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent sinopulmonary infections in early childhood and that has_material_basis_in homozygous mutation in the CTNNBL1 gene on chromosome 20q11.", "url": 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"https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" } ], "biological_process": [ { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "somatic diversification of immunoglobulins", "id": "GO:0016445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016445", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4V8K2-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Ser389", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" } ] } ] }, { "uniprot_canonical_ac": "Q4V8K2-1", "start_pos": "545", "end_pos": "545", "site_lbl": "Ser545", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4V8K2", "url": "https://www.uniprot.org/uniprotkb/Q4V8K2" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q4V8K2", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q4V8K2" } ] } ] } ], "record_id": "Q4V8K2-1" }, { "uniprot_canonical_ac": "P11884-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 519, "chemical_mass": 56488.0, "gene_names": "Acad10;Aldh2;Aldh2", "protein_name": "Aldehyde dehydrogenase, mitochondrial", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "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 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "ethanol catabolic process", "id": "GO:0006068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006068", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "aldehyde catabolic process", "id": "GO:0046185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046185", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "apoptotic mitochondrial changes", "id": "GO:0008637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008637", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "cellular response to resveratrol", "id": "GO:1904639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904639", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "acetaldehyde metabolic process", "id": "GO:0006117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006117", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "regulation of response to oxidative stress", "id": "GO:1902882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902882", "evidence": [ { "database": "UniProtKB", "id": "P11884", "url": "https://www.uniprot.org/uniprotkb/P11884" } ], "pmid": "" }, { "name": "ethanol metabolic process", "id": "GO:0006067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006067", "evidence": [ { "database": "UniProtKB", "id": 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It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11516", "name": "hypertensive heart disease", "description": "A heart disease that is caused by high blood pressure.", "url": "https://disease-ontology.org/term/DOID:11516", "evidence": [ { "id": "11516", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11516" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9651", "name": "systolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9651", "evidence": [ { "id": "9651", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9651" } ], "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": "response to 3-methylcholanthrene", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "receptor guanylyl cyclase signaling pathway", "id": "GO:0007168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007168", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "positive regulation of collecting lymphatic vessel constriction", "id": "GO:1903816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903816", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "homeostasis of number of cells", "id": "GO:0048872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048872", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "cGMP metabolic process", "id": "GO:0046068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046068", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "negative regulation of cholangiocyte proliferation", "id": "GO:1904055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904055", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "response to oxygen levels", "id": "GO:0070482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070482", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "hormone receptor binding", "id": "GO:0051427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051427", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P13205", "url": "https://www.uniprot.org/uniprotkb/P13205" } ], "pmid": "" }, { "name": 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"name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q4KM79", "url": "https://www.uniprot.org/uniprotkb/Q4KM79" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q4KM79-1" }, { "uniprot_canonical_ac": "Q5PPJ4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5PPJ4", "url": "https://www.uniprot.org/uniprotkb/Q5PPJ4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 302, "chemical_mass": 33077.0, "gene_names": "Dohh;DOHH;Dohh;RGD1304783", "protein_name": "Deoxyhypusine hydroxylase", "disease": [ { "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": 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"blastocyst development", "id": "GO:0001824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001824", "evidence": [ { "database": "UniProtKB", "id": "Q4V7E1", "url": "https://www.uniprot.org/uniprotkb/Q4V7E1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q4V7E1-1" }, { "uniprot_canonical_ac": "Q4KLP0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q4KLP0", "url": "https://www.uniprot.org/uniprotkb/Q4KLP0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 920, "chemical_mass": 102642.0, "gene_names": "Dhtkd1;Dhtkd1;E1a;OADC-E1;OADH-E1", "protein_name": "2-oxoadipate dehydrogenase complex component E1", "disease": [ { "disease_id": "DOID:0110170", "name": "Charcot-Marie-Tooth disease axonal type 2Q", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation 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"Q4KLP0-1" }, { "uniprot_canonical_ac": "P05371-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 447, "chemical_mass": 51375.0, "gene_names": "Clu", "protein_name": "Clusterin", "disease": [ { "disease_id": "DOID:0050426", "name": "Stevens-Johnson syndrome", "description": "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. 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homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.", "url": "https://disease-ontology.org/term/DOID:0060449", "evidence": [ { "id": "0060449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060449" } ], "weight": 0.0 }, { "disease_id": "DOID:0080000", "name": "muscular disease", "description": "A musculoskeletal system disease that affects the muscles.", "url": "https://disease-ontology.org/term/DOID:0080000", "evidence": [ { "id": "0080000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080000" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11555", "name": "Fuchs' endothelial dystrophy", "description": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.", "url": "https://disease-ontology.org/term/DOID:11555", "evidence": [ { "id": "11555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11555" } ], "weight": 0.0 }, { "disease_id": "DOID:11656", "name": "cicatricial 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Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "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:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": 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{ "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3429", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.", "url": "https://disease-ontology.org/term/DOID:3429", "evidence": [ { "id": "3429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3429" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4251", "name": "conjunctival disease", "description": "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids.", "url": "https://disease-ontology.org/term/DOID:4251", "evidence": [ { "id": "4251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4251" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:4930", "name": "nasal cavity adenocarcinoma", "description": "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4930", "evidence": [ { "id": "4930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4930" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } 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CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "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:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "biological_process": [ { "name": "immune complex clearance", "id": "GO:0002434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002434", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902230", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of protein-containing complex assembly", "id": "GO:0031334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031334", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "cellular response to 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}, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis", "id": "GO:0048260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048260", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "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": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "regulation of amyloid-beta clearance", "id": "GO:1900221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900221", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of neurofibrillary tangle assembly", "id": "GO:1902998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902998", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "response to potassium ion", "id": "GO:0035864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035864", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of complement activation", "id": "GO:0045916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045916", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "chaperone-mediated protein complex assembly", "id": "GO:0051131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of activation of membrane attack complex", "id": "GO:0001971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001971", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "central nervous system myelin maintenance", "id": "GO:0032286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032286", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "response to misfolded protein", "id": "GO:0051788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051788", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "microglial cell proliferation", "id": "GO:0061518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061518", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein targeting to lysosome involved in chaperone-mediated autophagy", "id": "GO:0061740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061740", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "regulation of neuronal signal transduction", "id": "GO:1902847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902847", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of response to endoplasmic reticulum stress", "id": "GO:1903573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903573", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "negative regulation of complement-dependent cytotoxicity", "id": "GO:1903660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903660", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor binding", "id": "GO:0050750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050750", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "misfolded protein binding", "id": "GO:0051787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051787", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein carrier chaperone", "id": "GO:0140597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140597", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" }, { "name": "protein sequestering activity", "id": "GO:0140311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140311", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": "https://www.uniprot.org/uniprotkb/P05371" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P05371", "url": 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"" }, { "name": "negative regulation of retinoic acid biosynthetic process", "id": "GO:1900053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900053", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "regulation of testosterone biosynthetic process", "id": "GO:2000224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000224", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "parturition", "id": "GO:0007567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007567", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "cellular response to gonadotropin-releasing hormone", "id": "GO:0097211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097211", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "regulation of steroid biosynthetic process", "id": "GO:0050810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050810", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "cellular response to prolactin", "id": "GO:1990646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990646", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "progesterone catabolic process", "id": "GO:0006709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006709", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" } ], "molecular_function": [ { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "retinal dehydrogenase (NAD+) activity", "id": "GO:0001758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001758", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "Delta4-3-oxosteroid 5beta-reductase activity", "id": "GO:0047787", "url": 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dehydrogenase [NAD(P)+] activity", "id": "GO:0047023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047023", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "bile acid binding", "id": "GO:0032052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032052", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "prostaglandin H2 endoperoxidase reductase activity", "id": "GO:0036130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036130", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { "name": "prostaglandin D2 11-ketoreductase activity", "id": "GO:0036131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036131", "evidence": [ { "database": "UniProtKB", "id": "P51652", "url": "https://www.uniprot.org/uniprotkb/P51652" } ], "pmid": "" }, { 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"https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": "https://disease-ontology.org/term/DOID:13922", "evidence": [ { "id": "13922", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13922" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "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: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4661", "name": "multiple chemical sensitivity", "description": "A syndrome that is an adverse physical reaction to low levels of many common chemicals.", "url": "https://disease-ontology.org/term/DOID:4661", "evidence": [ { "id": "4661", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4661" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "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:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": 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"chemical_mass": 48245.0, "gene_names": "Ednra;ET-AR;ET-A;Ednra;Endor;Eta;RGD1559432", "protein_name": "Endothelin-1 receptor", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": 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"database": "UniProtKB", "id": "P26684", "url": "https://www.uniprot.org/uniprotkb/P26684" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "P26684", "url": "https://www.uniprot.org/uniprotkb/P26684" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P26684", "url": "https://www.uniprot.org/uniprotkb/P26684" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P26684", "url": "https://www.uniprot.org/uniprotkb/P26684" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P26684", 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norvegicus [10116]" } ], "length": 391, "chemical_mass": 44456.0, "gene_names": "Apoa4;Apo-AIV;ApoA-IV;Apoa4;apoAIV", "protein_name": "Apolipoprotein A-IV", "disease": [ { "disease_id": "DOID:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "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:0061121", "name": "autosomal dominant tubulointerstitial kidney disease 6", "description": "An autosomal dominant tubulointerstitial kidney disease characterized by the onset of slowly progressive chronic renal failure beginning in mid-to-late adulthood that has_material_basis_in heterozygous mutation in the APOA4 gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0061121", "evidence": [ { "id": "0061121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061121" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": 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"id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "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:705", "name": "Leber hereditary optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:705", "evidence": [ { "id": "705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:705" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "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:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "phosphatidylcholine binding", "id": "GO:0031210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031210", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "phosphatidylcholine-sterol O-acyltransferase activator activity", "id": "GO:0060228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060228", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "high-density lipoprotein particle", "id": "GO:0034364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034364", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle", "id": "GO:0034361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034361", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "chylomicron", "id": "GO:0042627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042627", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "low-density lipoprotein particle", "id": "GO:0034362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034362", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "extracellular vesicle", "id": "GO:1903561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903561", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" } ], "biological_process": [ { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "positive regulation of triglyceride catabolic process", "id": "GO:0010898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010898", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "reverse cholesterol transport", "id": "GO:0043691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043691", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "leukocyte cell-cell adhesion", "id": "GO:0007159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007159", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "P02651", "url": "https://www.uniprot.org/uniprotkb/P02651" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": 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"https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "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 } ], "molecular_function": [ { "name": "type 1 metabotropic glutamate receptor binding", "id": "GO:0031798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031798", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "TFIIB-class transcription factor binding", "id": "GO:0001093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001093", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": 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"https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "TBP-class protein binding", "id": "GO:0017025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017025", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "nuclear estrogen receptor activity", "id": "GO:0030284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030284", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulatory subunit binding", "id": "GO:0036312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036312", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "estrogen binding", "id": "GO:0099130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099130", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" } ], "biological_process": [ { "name": "antral ovarian follicle growth", "id": "GO:0001547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001547", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "prostate epithelial cord elongation", "id": "GO:0060523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060523", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis", "id": "GO:0060527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060527", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "mammary gland branching involved in pregnancy", "id": "GO:0060745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060745", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "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": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "regulation of toll-like receptor signaling pathway", "id": "GO:0034121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034121", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "negative regulation of triglyceride metabolic process", "id": "GO:0090209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090209", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "steroid hormone receptor signaling pathway", "id": "GO:0043401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043401", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P06211", "url": "https://www.uniprot.org/uniprotkb/P06211" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", 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"Q5QE79", "url": "https://www.uniprot.org/uniprotkb/Q5QE79" } ], "pmid": "" }, { "name": "2 iron, 2 sulfur cluster binding", "id": "GO:0051537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051537", "evidence": [ { "database": "UniProtKB", "id": "Q5QE79", "url": "https://www.uniprot.org/uniprotkb/Q5QE79" } ], "pmid": "" }, { "name": "molybdopterin cofactor binding", "id": "GO:0043546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043546", "evidence": [ { "database": "UniProtKB", "id": "Q5QE79", "url": "https://www.uniprot.org/uniprotkb/Q5QE79" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q5QE79", "url": "https://www.uniprot.org/uniprotkb/Q5QE79" } ], "pmid": "" }, { "name": "molybdenum ion binding", "id": "GO:0030151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030151", "evidence": [ { "database": "UniProtKB", "id": "Q5QE79", "url": 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abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:9562", "name": "primary ciliary dyskinesia", "description": "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.", "url": "https://disease-ontology.org/term/DOID:9562", "evidence": [ { "id": "9562", "database": 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"https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P52303", "url": "https://www.uniprot.org/uniprotkb/P52303" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P52303-1" }, { "uniprot_canonical_ac": "P60711-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 375, "chemical_mass": 41737.0, "gene_names": "Actb;Actg1;Actb;Actg1l1;Actx;LOC100361457", "protein_name": "Actin, cytoplasmic 1", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081112", "name": "Baraitser-Winter syndrome 1", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0081113", "name": "Baraitser-Winter syndrome 2", "description": "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0081113", "evidence": [ { "id": "0081113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081113" } ], "weight": 0.0 }, { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110317", "evidence": [ { "id": "0110317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110317" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:10881", "name": "hand, foot and mouth disease", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Enterovirus A (Enterovirus alphacoxsackie), which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet.", "url": "https://disease-ontology.org/term/DOID:10881", "evidence": [ { "id": "10881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10881" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:3191", "name": "nemaline myopathy", "description": "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.", "url": "https://disease-ontology.org/term/DOID:3191", "evidence": [ { "id": "3191", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3191" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:422", "name": "congenital structural myopathy", "description": "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.", "url": "https://disease-ontology.org/term/DOID:422", "evidence": [ { "id": "422", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:422" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton", "id": "GO:0098871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098871", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "dynactin complex", "id": "GO:0005869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005869", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "cortical cytoskeleton", "id": "GO:0030863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030863", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "dense body", "id": "GO:0097433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097433", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "apical junction complex", "id": "GO:0043296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043296", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "tight junction", "id": "GO:0070160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070160", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P60711", "url": "https://www.uniprot.org/uniprotkb/P60711" } ], "pmid": "" }, { "name": "kinesin 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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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "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:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "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:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "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": "lipid hydroxylation", "id": "GO:0002933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002933", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "monoterpenoid metabolic process", "id": "GO:0016098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016098", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "response to 3-methylcholanthrene", "id": "GO:1904681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904681", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "response to ozone", "id": "GO:0010193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010193", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "4-nitrophenol metabolic process", "id": "GO:0018960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018960", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "long-chain fatty acid omega-1 hydroxylase activity", "id": "GO:0120319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120319", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" }, { "name": "4-nitrophenol 2-monooxygenase activity", "id": "GO:0018601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018601", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P05182-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ser129", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P05182", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P05182" }, { "database": "PubMed", "id": "12191992", "url": "https://glygen.org/publication/PubMed/12191992" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces interaction with HSP70; impairs interaction with HSP90.", "evidence": [ { "database": "UniProtKB", "id": "P05182", "url": "https://www.uniprot.org/uniprotkb/P05182" }, { "database": "PubMed", "id": "19401463", "url": "https://glygen.org/publication/PubMed/19401463" } ] } ] } ], "record_id": "P05182-1" }, { "uniprot_canonical_ac": "Q5FVQ7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5FVQ7", "url": "https://www.uniprot.org/uniprotkb/Q5FVQ7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 190, "chemical_mass": 20228.0, "gene_names": "Fam174a;Fam174a;Fam174;RGD1309973;Tmem157", "protein_name": "Membrane protein FAM174A", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5FVQ7", "url": "https://www.uniprot.org/uniprotkb/Q5FVQ7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5FVQ7-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Asn27", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 27, "start_aa": "Asn", "end_pos": 27, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn27", "evidence": [ { "id": "Q5FVQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5FVQ7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q5FVQ7-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Thr61", "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": 61, "start_aa": "Thr", "end_pos": 61, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr61", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "Q5FVQ7-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Asn83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 83, "start_aa": "Asn", "end_pos": 83, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn83", "evidence": [ { "id": "Q5FVQ7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5FVQ7#ptm_processing" } ] } ] } ], "record_id": "Q5FVQ7-1" }, { "uniprot_canonical_ac": "Q5I0K7-1", "species": [ { "name": "Rattus norvegicus", 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"id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "unidimensional cell growth", "id": "GO:0009826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009826", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "paraxial mesoderm development", "id": "GO:0048339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "apical constriction", "id": "GO:0003383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003383", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "somite rostral/caudal axis specification", "id": "GO:0032525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032525", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "axial mesoderm morphogenesis", "id": "GO:0048319", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048319", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "neural plate morphogenesis", "id": "GO:0001839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001839", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "positive regulation of cell-matrix adhesion", "id": "GO:0001954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001954", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "mesoderm migration involved in gastrulation", "id": "GO:0007509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007509", "evidence": [ { "database": "UniProtKB", "id": "Q5FVG2", "url": "https://www.uniprot.org/uniprotkb/Q5FVG2" } ], "pmid": "" }, { "name": "substrate-dependent cell migration, cell attachment to substrate", "id": "GO:0006931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006931", "evidence": [ { 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P30729", "url": "https://www.uniprot.org/uniprotkb/P30729" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 387, "chemical_mass": 41294.0, "gene_names": "Drd4", "protein_name": "D(4) dopamine receptor", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0060040", "name": "pervasive developmental disorder", "description": "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as 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"gene_names": "Dnajc25;Dnajc25", "protein_name": "DnaJ homolog subfamily C member 25", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5BJW9", "url": "https://www.uniprot.org/uniprotkb/Q5BJW9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q5BJW9", "url": "https://www.uniprot.org/uniprotkb/Q5BJW9" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q5BJW9", "url": "https://www.uniprot.org/uniprotkb/Q5BJW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5BJW9-1" }, { "uniprot_canonical_ac": "P19112-1", "species": [ { "name": 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"https://www.alliancegenome.org/disease/DOID:11836" } ], "weight": 0.0 }, { "disease_id": "DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:3132", "name": "porphyria cutanea tarda", "description": "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin.", "url": "https://disease-ontology.org/term/DOID:3132", "evidence": [ { "id": "3132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3132" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5204", "name": "fructose-1,6-bisphosphatase deficiency", "description": "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis.", "url": "https://disease-ontology.org/term/DOID:5204", "evidence": [ { "id": "5204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5204" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:6132", "name": "bronchitis", "description": "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:6132", "evidence": [ { "id": "6132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6132" } ], "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: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: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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "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:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, 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"weight": 0.0 }, { "disease_id": "DOID:2218", "name": "blood platelet disease", "description": "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction.", "url": "https://disease-ontology.org/term/DOID:2218", "evidence": [ { "id": "2218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2218" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "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) 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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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:9778", "name": "irritable bowel syndrome", "description": "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.", "url": "https://disease-ontology.org/term/DOID:9778", "evidence": [ { "id": "9778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9778" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": 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"neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": 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"id": "GO:0060996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060996", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "optic nerve morphogenesis", "id": "GO:0021631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021631", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "central nervous system projection neuron axonogenesis", "id": "GO:0021952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021952", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "dendritic spine morphogenesis", "id": "GO:0060997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060997", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "P09759", "url": "https://www.uniprot.org/uniprotkb/P09759" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "righting reflex", "id": "GO:0060013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060013", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "cerebellar Purkinje cell differentiation", "id": "GO:0021702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021702", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "vocalization behavior", "id": "GO:0071625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071625", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation 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factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P0CF24", "url": "https://www.uniprot.org/uniprotkb/P0CF24" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, 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"binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P0CF24-1" }, { "uniprot_canonical_ac": "P0CH38-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprotkb/P0CH38" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 230, "chemical_mass": 25759.0, "gene_names": "Fbxo45", "protein_name": "F-box/SPRY domain-containing protein 1", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprotkb/P0CH38" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprotkb/P0CH38" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprotkb/P0CH38" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprotkb/P0CH38" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P0CH38", "url": "https://www.uniprot.org/uniprotkb/P0CH38" } ], "pmid": "" }, { "name": "protein K48-linked 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"name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "cell dedifferentiation", "id": "GO:0043697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043697", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "trophectodermal cellular morphogenesis", "id": "GO:0001831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001831", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "regulation of stem cell division", "id": "GO:2000035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000035", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "trophectodermal cell proliferation", "id": "GO:0001834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001834", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "morula formation", "id": "GO:0140001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140001", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" } ], "molecular_function": [ { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "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": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" }, { "name": "integrator complex", "id": "GO:0032039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032039", "evidence": [ { "database": "UniProtKB", "id": "P11475", "url": "https://www.uniprot.org/uniprotkb/P11475" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P11475-1" }, { "uniprot_canonical_ac": "P13107-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 491, "chemical_mass": 56384.0, "gene_names": "Cyp2b3;CYPIIB3;Cyp2b-3;Cyp2b3;Cyp2b6", "protein_name": "Cytochrome P450 2B3", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "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: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: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:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ketone metabolic process", "id": "GO:0042180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042180", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "response to Aroclor 1254", "id": "GO:1904010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904010", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" } ], "molecular_function": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "estrogen 2-hydroxylase activity", "id": "GO:0101021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101021", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "testosterone 16-alpha-hydroxylase activity", "id": "GO:0008390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008390", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "testosterone 16-beta-hydroxylase activity", "id": "GO:0062184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062184", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "anandamide 8,9 epoxidase activity", "id": "GO:0062187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062187", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "anandamide 11,12 epoxidase activity", "id": "GO:0062188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062188", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "anandamide 14,15 epoxidase activity", "id": "GO:0062189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062189", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P13107", "url": "https://www.uniprot.org/uniprotkb/P13107" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P13107-1" }, { "uniprot_canonical_ac": "P13803-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 333, "chemical_mass": 34951.0, "gene_names": "Etfa;ETF;Etfa", "protein_name": "Electron transfer flavoprotein subunit alpha, mitochondrial", "disease": [ { "disease_id": "DOID:0060358", "name": "multiple acyl-CoA dehydrogenase deficiency", "description": "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" }, { "name": "electron transfer flavoprotein complex", "id": "GO:0045251", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045251", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" } ], "biological_process": [ { "name": "fatty acid beta-oxidation using acyl-CoA dehydrogenase", "id": "GO:0033539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033539", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" }, { "name": "amino acid catabolic process", "id": "GO:0009063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009063", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P13803-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Ser133", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 133, "start_aa": "Ser", "end_pos": 133, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser133", "evidence": [ { "id": "27213235", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27213235" }, { "id": "P13803", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13803" }, { "id": "26446791", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26446791" }, { "id": "34502162", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34502162" }, { "id": "P13803", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13803" } ] } ] }, { "uniprot_canonical_ac": "P13803-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Ser220", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 220, "start_aa": "Ser", "end_pos": 220, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser220", "evidence": [ { "id": "27213235", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27213235" }, { "id": "P13803", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13803" }, { "id": "26446791", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26446791" }, { "id": "34502162", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34502162" } ] } ] }, { "uniprot_canonical_ac": "P13803-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ser248", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 248, "start_aa": "Ser", "end_pos": 248, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser248", "evidence": [ { "id": "27213235", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27213235" }, { "id": "P13803", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P13803" }, { "id": "26446791", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26446791" }, { "id": "34502162", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34502162" }, { "id": "P13803", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P13803" } ] } ] }, { "uniprot_canonical_ac": "P13803-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Ser140", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ] } ] }, { "uniprot_canonical_ac": "P13803-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P13803", "url": "https://www.uniprot.org/uniprotkb/P13803" } ] } ] } ], "record_id": "P13803-1" }, { "uniprot_canonical_ac": "P14408-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 507, "chemical_mass": 54465.0, "gene_names": "Fh;Fh1;Fh", "protein_name": "Fumarate hydratase, mitochondrial", "disease": [ { "disease_id": "DOID:0111261", "name": "fumarase deficiency", "description": "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.", "url": "https://disease-ontology.org/term/DOID:0111261", "evidence": [ { "id": "0111261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111261" } ], "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:5138", "name": "leiomyomatosis", "description": "A leiomyoma that is multiple and diffuse.", "url": "https://disease-ontology.org/term/DOID:5138", "evidence": [ { "id": "5138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5138" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of double-strand break repair via nonhomologous end joining", "id": "GO:2001034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001034", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "fumarate metabolic process", "id": "GO:0006106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006106", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "tricarboxylic acid cycle", "id": "GO:0006099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006099", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "urea cycle", "id": "GO:0000050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000050", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "arginine metabolic process", "id": "GO:0006525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006525", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "malate metabolic process", "id": "GO:0006108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006108", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "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": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" } ], "molecular_function": [ { "name": "fumarate hydratase activity", "id": "GO:0004333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004333", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" }, { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "P14408", "url": "https://www.uniprot.org/uniprotkb/P14408" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 360, "start_aa": "Thr", "end_pos": 360, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr360", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19139", "url": "https://www.uniprot.org/uniprotkb/P19139" } ] } ] }, { "uniprot_canonical_ac": "P19139-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Thr344", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P19139", "url": "https://www.uniprot.org/uniprotkb/P19139" } ] } ] }, { "uniprot_canonical_ac": "P19139-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ 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"disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "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": "angiogenesis", "id": "GO:0001525", 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"" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting adrenergic receptor signaling pathway", "id": "GO:0071881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071881", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "adrenergic receptor signaling pathway", "id": "GO:0071875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071875", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" }, { "name": "positive regulation of uterine smooth muscle contraction", "id": "GO:0070474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070474", "evidence": [ { "database": "UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { 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"UniProtKB", "id": "P19328", "url": "https://www.uniprot.org/uniprotkb/P19328" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P19328-1" }, { "uniprot_canonical_ac": "P20291-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P20291", "url": "https://www.uniprot.org/uniprotkb/P20291" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 161, "chemical_mass": 18070.0, "gene_names": "Alox5ap;Alox5ap;Flap", "protein_name": "Arachidonate 5-lipoxygenase-activating protein", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "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:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 }, { "disease_id": "DOID:1969", "name": "cerebral palsy", "description": "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance.", "url": "https://disease-ontology.org/term/DOID:1969", "evidence": [ { "id": "1969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1969" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "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:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "P20291", "url": "https://www.uniprot.org/uniprotkb/P20291" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P20291", "url": "https://www.uniprot.org/uniprotkb/P20291" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P20291", "url": "https://www.uniprot.org/uniprotkb/P20291" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P20291", "url": "https://www.uniprot.org/uniprotkb/P20291" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", 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"P20291-1" }, { "uniprot_canonical_ac": "P20812-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P20812", "url": "https://www.uniprot.org/uniprotkb/P20812" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 494, "chemical_mass": 56510.0, "gene_names": "Cyp2a3;Cyp2a-3;Cyp2a3a;Cyp2a3;RATCYP2A3A", "protein_name": "Cytochrome P450 2A3", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:0080665", "name": "warfarin resistance", "description": "An inherited metabolic disorder that is characterized by a high tolerance for the drug 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The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). 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Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:870", "name": "neuropathy", "description": "A nervous system disease that is located_in nerves or nerve cells.", "url": "https://disease-ontology.org/term/DOID:870", "evidence": [ { "id": "870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:870" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin 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"disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0060322", "name": "mastoiditis", "description": "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process.", "url": "https://disease-ontology.org/term/DOID:0060322", "evidence": [ { "id": "0060322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060322" } ], "weight": 0.0 }, { "disease_id": "DOID:0070355", "name": "overactive bladder syndrome", "description": "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia.", "url": "https://disease-ontology.org/term/DOID:0070355", "evidence": [ { "id": "0070355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070355" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "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:0110234", "name": "cataract 4 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0110234", "evidence": [ { "id": "0110234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110234" } ], "weight": 0.0 }, { "disease_id": "DOID:0110235", "name": "cataract 2 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33.", "url": "https://disease-ontology.org/term/DOID:0110235", "evidence": [ { "id": "0110235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110235" } ], "weight": 0.0 }, { "disease_id": "DOID:0110260", "name": "cataract 7", "description": "A cataract that has_material_basis_in variation in the region 17q24.", "url": "https://disease-ontology.org/term/DOID:0110260", "evidence": [ { "id": "0110260", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110260" } ], "weight": 0.0 }, { "disease_id": "DOID:1003", "name": "pelvic inflammatory disease", "description": "A female reproductive system disease that is characterized by an infection of the female reproductive organs.", "url": "https://disease-ontology.org/term/DOID:1003", "evidence": [ { "id": "1003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1003" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:1063", "name": "interstitial nephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:1063", "evidence": [ { "id": "1063", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1063" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:11561", "name": "hypertensive retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11561", "evidence": [ { "id": "11561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11561" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11758", "name": "iron deficiency anemia", "description": "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells.", "url": "https://disease-ontology.org/term/DOID:11758", "evidence": [ { "id": "11758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11758" } ], "weight": 0.0 }, { "disease_id": "DOID:12683", "name": "vestibular neuronitis", "description": "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent.", "url": "https://disease-ontology.org/term/DOID:12683", "evidence": [ { "id": "12683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12683" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "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:13276", "name": "Mycoplasma pneumoniae pneumonia", "description": "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.", "url": "https://disease-ontology.org/term/DOID:13276", "evidence": [ { "id": "13276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13276" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:13801", "name": "pharyngoconjunctival fever", "description": "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or 7, serotypes of Mastadenovirus blackbeardi, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache.", "url": "https://disease-ontology.org/term/DOID:13801", "evidence": [ { "id": "13801", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13801" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1474", "name": "aggressive periodontitis", "description": "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.", "url": "https://disease-ontology.org/term/DOID:1474", "evidence": [ { "id": "1474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1474" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "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 }, { "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:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:403", "name": "mouth disease", "description": "A gastrointestinal system disease that is located_in the mouth.", "url": "https://disease-ontology.org/term/DOID:403", "evidence": [ { "id": "403", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:403" } ], "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:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "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:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "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 }, { "disease_id": "DOID:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "weight": 0.0 }, { "disease_id": "DOID:853", "name": "polymyalgia rheumatica", "description": "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.", "url": "https://disease-ontology.org/term/DOID:853", "evidence": [ { "id": "853", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:853" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "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:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9463", "name": "otitis externa", "description": "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections.", "url": "https://disease-ontology.org/term/DOID:9463", "evidence": [ { "id": "9463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9463" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "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": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "negative regulation of macrophage derived foam cell differentiation", "id": "GO:0010745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010745", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "negative regulation of superoxide anion generation", "id": "GO:0032929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032929", "evidence": [ { "database": "UniProtKB", "id": "P48199", "url": "https://www.uniprot.org/uniprotkb/P48199" } ], "pmid": "" }, { "name": "response to 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"P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P48317", "url": "https://www.uniprot.org/uniprotkb/P48317" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P48317-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Thr2", "weight": 0.0, "phosphorylation": [ { 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"https://www.alliancegenome.org/disease/DOID:0050458" } ], "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:0080855", "name": "Parkinsonism", "description": "A movement disorder that is characterized by disturbances of balance, gait and posture.", "url": "https://disease-ontology.org/term/DOID:0080855", "evidence": [ { "id": "0080855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080855" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "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:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of trophectodermal cell proliferation", "id": "GO:1904075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904075", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "neutrophil differentiation", "id": "GO:0030223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030223", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of interleukin-23 production", "id": "GO:0032747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032747", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "response to silicon dioxide", "id": "GO:0034021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034021", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "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": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "histamine secretion", "id": "GO:0001821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001821", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "cellular response to granulocyte macrophage colony-stimulating factor stimulus", "id": "GO:0097011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097011", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "response to fluid shear stress", "id": "GO:0034405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034405", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of podosome assembly", "id": "GO:0071803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071803", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "myeloid dendritic cell differentiation", "id": "GO:0043011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043011", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "epithelial cell proliferation", "id": "GO:0050673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050673", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "positive regulation of leukocyte proliferation", "id": "GO:0070665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070665", "evidence": [ { "database": "UniProtKB", "id": "P48750", "url": "https://www.uniprot.org/uniprotkb/P48750" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via STAT", "id": "GO:0097696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097696", "evidence": [ { 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The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "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:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "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:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "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", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034386", "evidence": [ { "database": "UniProtKB", "id": "P50554", "url": "https://www.uniprot.org/uniprotkb/P50554" } ], "pmid": "" }, { "name": "(S)-3-amino-2-methylpropionate transaminase activity", "id": "GO:0047298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047298", "evidence": [ { "database": "UniProtKB", "id": "P50554", "url": "https://www.uniprot.org/uniprotkb/P50554" } ], "pmid": "" }, { "name": "transaminase activity", "id": "GO:0008483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008483", "evidence": [ { "database": "UniProtKB", "id": "P50554", "url": "https://www.uniprot.org/uniprotkb/P50554" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P50554-1" }, { "uniprot_canonical_ac": "P51538-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P51538", "url": "https://www.uniprot.org/uniprotkb/P51538" } ], "common_name": 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"url": "https://www.uniprot.org/uniprotkb/P55062" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P55062", "url": "https://www.uniprot.org/uniprotkb/P55062" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P55062", "url": "https://www.uniprot.org/uniprotkb/P55062" } ], "pmid": "" }, { "name": "endoribonuclease inhibitor activity", "id": "GO:0060698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060698", "evidence": [ { "database": "UniProtKB", "id": "P55062", "url": "https://www.uniprot.org/uniprotkb/P55062" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P55062", "url": 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"P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 126, "chemical_mass": 13314.0, "gene_names": "Nppc;Cnp;Nppc", "protein_name": "C-type natriuretic peptide", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock 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Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 } ], "biological_process": [ { "name": "gastric emptying", "id": "GO:0035483", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035483", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "blood vessel diameter maintenance", "id": "GO:0097746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097746", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "post-embryonic development", "id": "GO:0009791", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051447", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "negative regulation of oocyte maturation", "id": "GO:1900194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900194", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte differentiation", "id": "GO:0003418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003418", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte proliferation", "id": "GO:0003419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003419", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell proliferation", "id": "GO:0048660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048660", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "P55207", "url": "https://www.uniprot.org/uniprotkb/P55207" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic 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"" }, { "name": "mitocytosis", "id": "GO:0160040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160040", "evidence": [ { "database": "UniProtKB", "id": "P63170", "url": "https://www.uniprot.org/uniprotkb/P63170" } ], "pmid": "" }, { "name": "negative regulation of DNA strand resection involved in replication fork processing", "id": "GO:0110027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110027", "evidence": [ { "database": "UniProtKB", "id": "P63170", "url": "https://www.uniprot.org/uniprotkb/P63170" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63170-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Ser88", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63170", "url": "https://www.uniprot.org/uniprotkb/P63170" } ] } ] } ], "record_id": "P63170-1" }, { "uniprot_canonical_ac": "P63255-1", "species": [ { "name": "Rattus 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"" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P70541", "url": "https://www.uniprot.org/uniprotkb/P70541" } ], "pmid": "" }, { "name": "eukaryotic translation initiation factor 2B complex", "id": "GO:0005851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005851", "evidence": [ { "database": "UniProtKB", "id": "P70541", "url": "https://www.uniprot.org/uniprotkb/P70541" } ], "pmid": "" } ], "molecular_function": [ { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "P70541", "url": "https://www.uniprot.org/uniprotkb/P70541" } ], "pmid": "" }, { "name": "translation initiation factor activity", "id": "GO:0003743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003743", "evidence": [ { "database": "UniProtKB", "id": "P70541", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of stress fiber assembly", "id": "GO:0051496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of wound healing", "id": "GO:0061045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061045", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", 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"GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "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": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of osteoblast proliferation", "id": "GO:0033689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033689", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "cellular response to platelet-derived growth factor stimulus", "id": "GO:0036120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036120", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion concentration", "id": "GO:0051481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051481", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "immune system development", "id": "GO:0002520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002520", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy in response to stress", "id": "GO:1903243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903243", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "pericardium development", "id": "GO:0060039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060039", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "trophoblast cell migration", "id": "GO:0061450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061450", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "signal transduction involved in regulation of gene expression", "id": "GO:0023019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023019", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta3 production", "id": "GO:0032916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032916", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "regulation of transforming growth factor beta2 production", "id": "GO:0032909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032909", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "positive regulation of alkaline phosphatase activity", "id": "GO:0010694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010694", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" } ], "molecular_function": [ { "name": "co-SMAD binding", "id": "GO:0070410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070410", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "nuclear mineralocorticoid receptor binding", "id": "GO:0031962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031962", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor binding", "id": "GO:0005160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005160", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "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": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "cis-regulatory region sequence-specific DNA binding", "id": "GO:0000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000987", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P84025", "url": "https://www.uniprot.org/uniprotkb/P84025" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", 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"UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "fibrinolysis", "id": "GO:0042730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042730", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "membrane raft assembly", "id": "GO:0001765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001765", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "vesicle budding from membrane", "id": "GO:0006900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006900", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "body fluid secretion", "id": "GO:0007589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007589", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of vesicle fusion", "id": "GO:0031340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031340", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "negative regulation of low-density lipoprotein particle receptor catabolic process", "id": "GO:0032804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032804", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of vacuole organization", "id": "GO:0044090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044090", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle clearance", "id": "GO:1905581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905581", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:1905602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905602", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "regulation of fibrinolysis", "id": "GO:0051917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051917", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "host-mediated activation of viral process", "id": "GO:0044794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044794", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "positive regulation of viral life cycle", "id": "GO:1903902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903902", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "epithelial cell apoptotic process", "id": "GO:1904019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904019", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "secretion", "id": "GO:0046903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046903", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "calcium-dependent phospholipid binding", "id": "GO:0005544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005544", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "phospholipase A2 inhibitor activity", "id": "GO:0019834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019834", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "bone sialoprotein binding", "id": "GO:0044730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044730", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "phospholipase inhibitor activity", "id": "GO:0004859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004859", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "myelin sheath adaxonal region", "id": "GO:0035749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035749", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "Schmidt-Lanterman incisure", "id": "GO:0043220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043220", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "macropinosome", "id": "GO:0044354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044354", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "PCSK9-AnxA2 complex", "id": "GO:1990667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990667", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "vesicle membrane", "id": "GO:0012506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012506", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { "name": "cornified envelope", "id": "GO:0001533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001533", "evidence": [ { "database": "UniProtKB", "id": "Q07936", "url": "https://www.uniprot.org/uniprotkb/Q07936" } ], "pmid": "" }, { 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"evidence": [ { "database": "UniProtKB", "id": "Q496Z0", "url": "https://www.uniprot.org/uniprotkb/Q496Z0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q496Z0", "url": "https://www.uniprot.org/uniprotkb/Q496Z0" } ], "pmid": "" }, { "name": "transcription elongation factor complex", "id": "GO:0008023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008023", "evidence": [ { "database": "UniProtKB", "id": "Q496Z0", "url": "https://www.uniprot.org/uniprotkb/Q496Z0" } ], "pmid": "" }, { "name": "elongator holoenzyme complex", "id": "GO:0033588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033588", "evidence": [ { "database": "UniProtKB", "id": "Q496Z0", "url": "https://www.uniprot.org/uniprotkb/Q496Z0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q496Z0", "url": "https://www.uniprot.org/uniprotkb/Q496Z0" } ], "pmid": "" }, { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q496Z0", "url": "https://www.uniprot.org/uniprotkb/Q496Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q496Z0-1" }, { "uniprot_canonical_ac": "Q498D1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 711, "chemical_mass": 79586.0, "gene_names": "Foxp1;Foxp1", "protein_name": "Forkhead box protein P1", "disease": [ { "disease_id": "DOID:0060038", "name": "specific developmental disorder", "description": "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.", "url": "https://disease-ontology.org/term/DOID:0060038", "evidence": [ { "id": "0060038", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060038" } ], "weight": 0.0 }, { "disease_id": "DOID:0090131", "name": "complex cortical dysplasia with other brain malformations", "description": "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations.", "url": "https://disease-ontology.org/term/DOID:0090131", "evidence": [ { "id": "0090131", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090131" } ], "weight": 0.0 }, { "disease_id": "DOID:0111331", "name": "intellectual disability-severe speech delay-mild dysmorphism syndrome", "description": "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.", "url": "https://disease-ontology.org/term/DOID:0111331", "evidence": [ { "id": "0111331", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111331" } ], "weight": 0.0 }, { "disease_id": "DOID:1255", "name": "trichostrongyloidiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea.", "url": "https://disease-ontology.org/term/DOID:1255", "evidence": [ { "id": "1255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1255" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "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:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "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:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9955", "name": "hypoplastic left heart syndrome", "description": "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart.", "url": "https://disease-ontology.org/term/DOID:9955", "evidence": [ { "id": "9955", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9955" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061052", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide-mediated programmed cell death", "id": "GO:1901300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901300", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of interleukin-1 beta production", "id": "GO:0032651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032651", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "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": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "monocyte activation", "id": "GO:0042117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042117", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "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": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of interleukin-12 production", "id": "GO:0032655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032655", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "endothelial cell activation", "id": "GO:0042118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042118", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor production", "id": "GO:0032680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032680", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of endothelial tube morphogenesis", "id": "GO:1901509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901509", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "pre-B cell differentiation", "id": "GO:0002329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002329", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000341", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "negative regulation of B cell apoptotic process", "id": "GO:0002903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002903", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "Q498D1", "url": "https://www.uniprot.org/uniprotkb/Q498D1" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ], "pmid": "" }, { "name": "cellular response to hormone stimulus", "id": "GO:0032870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032870", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": 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activity", "id": "GO:0016176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016176", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A7E3N2-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Thr225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ] } ] }, { "uniprot_canonical_ac": "A7E3N2-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ser316", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ] } ] }, { "uniprot_canonical_ac": "A7E3N2-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Ser400", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "A7E3N2", "url": "https://www.uniprot.org/uniprotkb/A7E3N2" } ] } ] } ], "record_id": "A7E3N2-1" }, { "uniprot_canonical_ac": "D3ZSI8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 546, "chemical_mass": 60605.0, "gene_names": "Pip5k1a;Pip5k1a;Pip5k1b", "protein_name": "Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { 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} ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "ruffle membrane", "id": "GO:0032587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "mRNA cleavage and polyadenylation specificity factor complex", "id": "GO:0005847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005847", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "phosphatidylinositol biosynthetic process", "id": "GO:0006661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006661", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "ruffle assembly", "id": "GO:0097178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097178", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "fibroblast migration", "id": "GO:0010761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010761", "evidence": [ { "database": "UniProtKB", "id": "D3ZSI8", "url": "https://www.uniprot.org/uniprotkb/D3ZSI8" } ], "pmid": "" }, { "name": "phospholipid 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"https://www.uniprot.org/uniprotkb/Q5U2U2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 303, "chemical_mass": 33865.0, "gene_names": "Crkl;Crkl", "protein_name": "Crk-like protein", "disease": [ { "disease_id": "DOID:10286", "name": "prostate carcinoma", "description": "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:10286", "evidence": [ { "id": "10286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10286" } ], "weight": 0.0 }, { "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. 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10116, "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 735, "chemical_mass": 80355.0, "gene_names": "Add1;Add1", "protein_name": "Alpha-adducin", "disease": [ { "disease_id": "DOID:0081361", "name": "spastic quadriplegic cerebral palsy 3", "description": "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.", "url": "https://disease-ontology.org/term/DOID:0081361", "evidence": [ { "id": "0081361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081361" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "barbed-end actin filament capping", "id": "GO:0051016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051016", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "positive regulation of establishment of endothelial barrier", "id": "GO:1903142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903142", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "positive regulation of adherens junction organization", "id": "GO:1903393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903393", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "cytoskeleton 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"url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": "https://www.uniprot.org/uniprotkb/Q63028" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q63028", "url": 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{ "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "host cell", "id": "GO:0043657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043657", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "cytoplasmic dynein complex", "id": "GO:0005868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005868", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "dynein complex", "id": "GO:0030286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030286", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9Z336-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Thr94", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on interaction with dynein intermediate chain (DYNC1I1 or DYNC1I2).", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" }, { "database": "PubMed", "id": "15992542", "url": "https://glygen.org/publication/PubMed/15992542" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Impairs interaction with dynein intermediate chain (DYNC1I1 or DYNC1I2).", "evidence": [ { "database": "UniProtKB", "id": "Q9Z336", "url": "https://www.uniprot.org/uniprotkb/Q9Z336" }, { "database": "PubMed", "id": "15992542", "url": "https://glygen.org/publication/PubMed/15992542" } ] } ] } ], "record_id": "Q9Z336-1" }, { "uniprot_canonical_ac": "Q63270-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q63270", "url": "https://www.uniprot.org/uniprotkb/Q63270" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 889, "chemical_mass": 98128.0, "gene_names": "Aco1;AH;Aco1;Acon1;IRP1;Ireb1;Irebp", "protein_name": "Cytoplasmic aconitate hydratase", "disease": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081335", "name": "Becker disease", "description": "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.", "url": "https://disease-ontology.org/term/DOID:0081335", "evidence": [ { "id": "0081335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081335" } ], "weight": 0.0 }, { "disease_id": "DOID:0081336", "name": "Thomsen disease", "description": "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.", "url": "https://disease-ontology.org/term/DOID:0081336", "evidence": [ { "id": "0081336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081336" } ], "weight": 0.0 }, { "disease_id": "DOID:13268", "name": "porphyria", "description": "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.", "url": 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"reference_species": "Rattus norvegicus [10116]" } ], "length": 584, "chemical_mass": 68266.0, "gene_names": "Catsper2;Catsper2", "protein_name": "Cation channel sperm-associated protein 2", "disease": [], "cellular_component": [ { "name": "CatSper complex", "id": "GO:0036128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036128", "evidence": [ { "database": "UniProtKB", "id": "Q6AXP6", "url": "https://www.uniprot.org/uniprotkb/Q6AXP6" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q6AXP6", "url": "https://www.uniprot.org/uniprotkb/Q6AXP6" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q6AXP6", "url": "https://www.uniprot.org/uniprotkb/Q6AXP6" } ], "pmid": "" } ], "biological_process": [ { "name": "fertilization", "id": 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response to endoplasmic reticulum stress", "id": "GO:1903573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903573", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" }, { "name": "hydrogen peroxide transmembrane transport", "id": "GO:0080170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080170", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" }, { "name": "channel activity", "id": "GO:0015267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015267", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" }, { "name": "glycerol channel activity", "id": "GO:0015254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015254", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" }, { "name": "hydrogen peroxide channel activity", "id": "GO:0140070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140070", "evidence": [ { "database": "UniProtKB", "id": "Q8CHM1", "url": "https://www.uniprot.org/uniprotkb/Q8CHM1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8CHM1-1" }, { "uniprot_canonical_ac": "Q920P6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 352, "chemical_mass": 39899.0, "gene_names": "Ada;Ada", "protein_name": "Adenosine deaminase", "disease": [ { "disease_id": "DOID:0050865", "name": "tongue squamous cell carcinoma", "description": "A head and neck squamous cell carcinoma that is located_in the tongue.", "url": "https://disease-ontology.org/term/DOID:0050865", "evidence": [ { "id": "0050865", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050865" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:10113", "name": "trypanosomiasis", "description": "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.", "url": "https://disease-ontology.org/term/DOID:10113", "evidence": [ { "id": "10113", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10113" } ], "weight": 0.0 }, { "disease_id": "DOID:10457", "name": "Legionnaires' disease", "description": "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.", "url": "https://disease-ontology.org/term/DOID:10457", "evidence": [ { "id": "10457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10457" } ], "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:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11100", "name": "Q fever", "description": "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia.", "url": "https://disease-ontology.org/term/DOID:11100", "evidence": [ { "id": "11100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11100" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:13223", "name": "uterine fibroid", "description": "An uterine benign neoplasm derived from the smooth muscle layer of the uterus.", "url": "https://disease-ontology.org/term/DOID:13223", "evidence": [ { "id": "13223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13223" } ], "weight": 0.0 }, { "disease_id": "DOID:13276", "name": "Mycoplasma pneumoniae pneumonia", "description": "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.", "url": "https://disease-ontology.org/term/DOID:13276", "evidence": [ { "id": "13276", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13276" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14484", "name": "sporotrichosis", "description": "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation.", "url": "https://disease-ontology.org/term/DOID:14484", "evidence": [ { "id": "14484", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14484" } ], "weight": 0.0 }, { "disease_id": "DOID:1790", "name": "malignant mesothelioma", "description": "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma.", "url": "https://disease-ontology.org/term/DOID:1790", "evidence": [ { "id": "1790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1790" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "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:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:5810", "name": "adenosine deaminase deficiency", "description": "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP.", "url": "https://disease-ontology.org/term/DOID:5810", "evidence": [ { "id": "5810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5810" } ], "weight": 0.0 }, { "disease_id": "DOID:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "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:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "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": "regulation of T cell differentiation in thymus", "id": "GO:0033081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033081", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "response to L-arginine", "id": "GO:1903576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903576", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "adenosine catabolic process", "id": "GO:0006154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006154", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "inosine biosynthetic process", "id": "GO:0046103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046103", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of leukocyte migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "T cell activation", "id": "GO:0042110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042110", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0042323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042323", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "adenosine metabolic process", "id": "GO:0046085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046085", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of mucus 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} ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "purine nucleotide salvage", "id": "GO:0032261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032261", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion mediated by integrin", "id": "GO:0033632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033632", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "hypoxanthine salvage", "id": "GO:0043103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043103", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "dATP catabolic process", "id": "GO:0046061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046061", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "xanthine biosynthetic process", "id": "GO:0046111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046111", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "Peyer's patch development", "id": "GO:0048541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048541", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "positive regulation of T cell receptor signaling pathway", "id": "GO:0050862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050862", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of adenosine receptor signaling pathway", "id": "GO:0060169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060169", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of penile erection", "id": "GO:0060407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060407", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "AMP catabolic process", "id": "GO:0006196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006196", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "regulation of T cell differentiation", "id": "GO:0045580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045580", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "hypoxanthine biosynthetic process", "id": "GO:0046101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046101", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "dAMP catabolic process", "id": "GO:0046059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046059", "evidence": [ { "database": "UniProtKB", "id": "Q920P6", "url": "https://www.uniprot.org/uniprotkb/Q920P6" } ], "pmid": "" }, { "name": "nucleotide metabolic process", "id": "GO:0009117", "url": 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"protein_name": "Cardiotrophin-1", "disease": [ { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { "disease_id": "DOID:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "weight": 0.0 }, { "disease_id": "DOID:0060872", "name": "isolated growth hormone deficiency type II", "description": "An isolated growth hormone deficiency 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tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "Q63086", "url": "https://www.uniprot.org/uniprotkb/Q63086" } ], "pmid": "" }, { "name": "leukemia inhibitory factor receptor binding", "id": "GO:0005146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005146", "evidence": [ { "database": "UniProtKB", "id": "Q63086", "url": "https://www.uniprot.org/uniprotkb/Q63086" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q63086-1" }, { "uniprot_canonical_ac": "Q5XIC8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 295, "chemical_mass": 34011.0, "gene_names": "Alkbh3;Abh3;Alkbh3", "protein_name": "Alpha-ketoglutarate-dependent dioxygenase alkB homolog 3", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "DNA alkylation repair", "id": "GO:0006307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006307", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "negative regulation of cytoplasmic translation", "id": "GO:2000766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000766", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" } ], "molecular_function": [ { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "2-oxoglutarate-dependent dioxygenase activity", "id": "GO:0016706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016706", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "cytosine C-5 DNA demethylase activity", "id": "GO:0051747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051747", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "mRNA N1-methyladenosine dioxygenase activity", "id": "GO:1990930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990930", "evidence": [ { "database": "UniProtKB", "id": "Q5XIC8", "url": "https://www.uniprot.org/uniprotkb/Q5XIC8" } ], "pmid": "" }, { "name": "oxidative RNA 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000815", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "kinetochore microtubule", "id": "GO:0005828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005828", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "kinetochore", "id": "GO:0000776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000776", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "multivesicular body membrane", "id": "GO:0032585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032585", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "amphisome membrane", "id": "GO:1904930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904930", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" } ], "biological_process": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "regulation of centrosome duplication", "id": "GO:0010824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010824", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "nuclear membrane reassembly", "id": "GO:0031468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031468", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "viral budding via host ESCRT complex", "id": "GO:0039702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0039702", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "multivesicular body-lysosome fusion", "id": "GO:0061763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061763", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "multivesicular body sorting pathway", "id": "GO:0071985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071985", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "regulation of early endosome to late endosome transport", "id": "GO:2000641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000641", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "suppression of viral release by host", "id": "GO:0044790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044790", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "endosome to lysosome transport", "id": "GO:0008333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "regulation of endosome size", "id": "GO:0051036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051036", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "late endosome to lysosome transport", "id": "GO:1902774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902774", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "positive regulation of cytokinesis", "id": "GO:0032467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032467", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS4", "url": "https://www.uniprot.org/uniprotkb/Q8CGS4" } ], "pmid": "" }, { "name": "late endosome to vacuole transport", 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