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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:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "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:1928", "name": "Williams-Beuren syndrome", "description": "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.", "url": "https://disease-ontology.org/term/DOID:1928", "evidence": [ { "id": "1928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1928" } ], "weight": 0.0 }, { "disease_id": "DOID:1929", "name": "supravalvular aortic stenosis", "description": "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart.", "url": "https://disease-ontology.org/term/DOID:1929", "evidence": [ { "id": "1929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1929" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "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:3144", "name": "cutis laxa", "description": "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.", "url": "https://disease-ontology.org/term/DOID:3144", "evidence": [ { "id": "3144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3144" } ], "weight": 0.0 }, { "disease_id": "DOID:3159", "name": "photosensitivity disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3159", "evidence": [ { "id": "3159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3159" } ], "weight": 0.0 }, { "disease_id": "DOID:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement 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"https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum", "id": "GO:0097038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097038", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" }, { "name": "calpain complex", "id": "GO:0110158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110158", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q07009", "url": "https://www.uniprot.org/uniprotkb/Q07009" } ], "pmid": "" 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"evidence": [ { "id": "0090116", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090116" } ], "weight": 0.0 }, { "disease_id": "DOID:0110108", "name": "atrial heart septal defect 3", "description": "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110108", "evidence": [ { "id": "0110108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110108" } ], "weight": 0.0 }, { "disease_id": "DOID:0110307", "name": "hypertrophic cardiomyopathy 1", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110307", "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ], "weight": 0.0 }, { "disease_id": "DOID:0110320", "name": "hypertrophic cardiomyopathy 14", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene.", "url": "https://disease-ontology.org/term/DOID:0110320", "evidence": [ { "id": "0110320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110320" } ], "weight": 0.0 }, { "disease_id": "DOID:0110453", "name": "dilated cardiomyopathy 1EE", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0110453", "evidence": [ { "id": "0110453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110453" } ], "weight": 0.0 }, { "disease_id": "DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12.", "url": "https://disease-ontology.org/term/DOID:0110454", "evidence": [ { "id": "0110454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ], "weight": 0.0 }, { "disease_id": "DOID:0111269", "name": "autosomal dominant hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.", "url": "https://disease-ontology.org/term/DOID:0111269", "evidence": [ { "id": "0111269", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111269" } ], "weight": 0.0 }, { "disease_id": "DOID:0111596", "name": "distal arthrogryposis type 1", "description": "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies.", "url": "https://disease-ontology.org/term/DOID:0111596", "evidence": [ { "id": "0111596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111596" } ], "weight": 0.0 }, { "disease_id": "DOID:0111602", "name": "distal arthrogryposis type 2B3", "description": "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111602", "evidence": [ { "id": "0111602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111602" } ], "weight": 0.0 }, { "disease_id": "DOID:0111605", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1.", "url": "https://disease-ontology.org/term/DOID:0111605", "evidence": [ { "id": "0111605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111605" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.", "url": "https://disease-ontology.org/term/DOID:11720", "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ], "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: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: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:1882", "name": "atrial heart septal defect", "description": "A heart septal defect located_in in the septum that separates the two atria of the heart.", "url": "https://disease-ontology.org/term/DOID:1882", "evidence": [ { "id": "1882", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1882" } ], "weight": 0.0 }, { "disease_id": "DOID:2106", "name": "myotonia congenita", "description": "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.", "url": "https://disease-ontology.org/term/DOID:2106", "evidence": [ { "id": "2106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2106" } ], "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:384", "name": "Wolff-Parkinson-White syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:384", "evidence": [ { "id": "384", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:384" } ], "weight": 0.0 }, { "disease_id": "DOID:397", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.", "url": "https://disease-ontology.org/term/DOID:397", "evidence": [ { "id": "397", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:397" } ], "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 }, { "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 } ], "biological_process": [ { "name": "regulation of slow-twitch skeletal muscle fiber contraction", "id": "GO:0031449", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031449", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of heart growth", "id": "GO:0060420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060420", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of heart contraction", "id": "GO:0008016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008016", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "muscle filament sliding", "id": "GO:0030049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030049", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of the force of skeletal muscle contraction", "id": "GO:0014728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014728", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "transition between fast and slow fiber", "id": "GO:0014883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014883", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "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": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "sarcomere organization", "id": "GO:0045214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "cellular response to 3,3',5-triiodo-L-thyronine", "id": "GO:1905243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905243", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "regulation of ATP-dependent activity", "id": "GO:0043462", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043462", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "visceral muscle development", "id": "GO:0007522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007522", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "atrial cardiac muscle tissue morphogenesis", "id": "GO:0055009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055009", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue morphogenesis", "id": "GO:0055010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055010", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "myofibril assembly", "id": "GO:0030239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030239", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" } ], "cellular_component": [ { "name": "muscle myosin complex", "id": "GO:0005859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005859", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "myosin II complex", "id": "GO:0016460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016460", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P02563", "url": "https://www.uniprot.org/uniprotkb/P02563" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": 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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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "protein phosphatase 2B binding", "id": "GO:0030346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030346", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "protein kinase B binding", "id": "GO:0043422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043422", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase activator activity", "id": "GO:0140608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140608", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "BAD-BCL-2 complex", "id": "GO:0097138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097138", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to oleic acid", "id": "GO:0034201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034201", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "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": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "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": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane permeability", "id": "GO:0046902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046902", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "release of cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "positive regulation of release of cytochrome c from mitochondria", "id": "GO:0090200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090200", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial membrane potential", "id": "GO:0010918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010918", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "pore complex assembly", "id": "GO:0046931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046931", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "ADP metabolic process", "id": "GO:0046031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046031", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "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": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "positive regulation of B cell differentiation", "id": "GO:0045579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045579", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "O35147", "url": "https://www.uniprot.org/uniprotkb/O35147" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": 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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: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:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers 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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:0080746", "name": "Sweet syndrome", "description": "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions.", "url": "https://disease-ontology.org/term/DOID:0080746", "evidence": [ { "id": "0080746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080746" } ], "weight": 0.0 }, { "disease_id": "DOID:0080933", "name": "immunoglobulin light chain amyloidosis", "description": "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.", "url": "https://disease-ontology.org/term/DOID:0080933", "evidence": [ { "id": "0080933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080933" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.", "url": "https://disease-ontology.org/term/DOID:0111563", "evidence": [ { "id": "0111563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ], "weight": 0.0 }, { "disease_id": "DOID:10126", "name": "keratoconus", "description": "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.", "url": "https://disease-ontology.org/term/DOID:10126", "evidence": [ { "id": "10126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10126" } ], "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:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "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: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: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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "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: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:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "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: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:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "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: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: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: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: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:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "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: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: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: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: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: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:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "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:255", "name": "hemangioma", "description": "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.", "url": "https://disease-ontology.org/term/DOID:255", "evidence": [ { "id": "255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:255" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "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: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: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: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: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: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: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: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: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: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:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "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:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "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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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: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: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:8553", "name": "pyoderma gangrenosum", "description": "", "url": "https://disease-ontology.org/term/DOID:8553", "evidence": [ { "id": "8553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8553" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "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:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in 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"https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to amyloid-beta", "id": "GO:1904645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904645", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "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": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "blood vessel maturation", "id": "GO:0001955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001955", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "collagen catabolic process", "id": "GO:0030574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030574", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "cellular response to amino acid stimulus", "id": "GO:0071230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071230", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "bone trabecula formation", "id": "GO:0060346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060346", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "parturition", "id": "GO:0007567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007567", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903378", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "luteinization", "id": "GO:0001553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001553", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "intramembranous ossification", "id": "GO:0001957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001957", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "positive regulation of innate immune response", "id": "GO:0045089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045089", "evidence": [ { "database": "UniProtKB", "id": "P33436", "url": "https://www.uniprot.org/uniprotkb/P33436" } ], "pmid": "" }, { "name": "cellular response to fluid shear stress", "id": "GO:0071498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071498", "evidence": [ { "database": "UniProtKB", "id": "P33436", 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"Q7TSF2", "url": "https://www.uniprot.org/uniprotkb/Q7TSF2" } ], "pmid": "" }, { "name": "neurotransmitter loading into synaptic vesicle", "id": "GO:0098700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098700", "evidence": [ { "database": "UniProtKB", "id": "Q7TSF2", "url": "https://www.uniprot.org/uniprotkb/Q7TSF2" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "Q7TSF2", "url": "https://www.uniprot.org/uniprotkb/Q7TSF2" } ], "pmid": "" }, { "name": "L-glutamate transmembrane transport", "id": "GO:0015813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015813", "evidence": [ { "database": "UniProtKB", "id": "Q7TSF2", "url": "https://www.uniprot.org/uniprotkb/Q7TSF2" } ], "pmid": "" }, { "name": "sodium-dependent phosphate transport", "id": "GO:0044341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044341", "evidence": [ { "database": "UniProtKB", "id": 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"uniprot_canonical_ac": "Q9WVR6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 533, "chemical_mass": 58190.0, "gene_names": "Slc7a8;Lat2;Lat4;Slc7a8", "protein_name": "Large neutral amino acids transporter small subunit 2", "disease": [ { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "L-alanine transmembrane transporter activity", "id": "GO:0015180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015180", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "glycine transmembrane transporter activity", "id": "GO:0015187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015187", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "L-amino acid transmembrane transporter activity", "id": "GO:0015179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015179", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": 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transporter activity", "id": "GO:0015175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015175", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "thyroid hormone transmembrane transporter activity", "id": "GO:0015349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015349", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "L-leucine transmembrane transporter activity", "id": "GO:0015190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015190", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" } ], "biological_process": [ { "name": "glycine transport", "id": "GO:0015816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015816", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "L-leucine transport", "id": "GO:0015820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015820", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "proline transmembrane transport", "id": "GO:0035524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035524", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { "name": "L-leucine import across plasma membrane", "id": "GO:1903801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903801", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR6", "url": "https://www.uniprot.org/uniprotkb/Q9WVR6" } ], "pmid": "" }, { 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"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:799", "name": "varicose veins", "description": "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.", "url": "https://disease-ontology.org/term/DOID:799", "evidence": [ { "id": "799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:799" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": 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0.0 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "P31000", "url": "https://www.uniprot.org/uniprotkb/P31000" } ], "pmid": "" }, { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "P31000", "url": "https://www.uniprot.org/uniprotkb/P31000" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P31000", "url": "https://www.uniprot.org/uniprotkb/P31000" } ], "pmid": "" }, { "name": "response to zinc ion", "id": "GO:0010043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010043", "evidence": [ { "database": "UniProtKB", "id": "P31000", "url": 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"id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 410, "chemical_mass": 44999.0, "gene_names": "Adora2a;A2ar;ADENO;Adora2a;Adora2l1", "protein_name": "Adenosine receptor A2a", "disease": [ { "disease_id": "DOID:11830", "name": "myopia", "description": "A refractive error characterized by the inability to see farther objects clearly.", "url": "https://disease-ontology.org/term/DOID:11830", "evidence": [ { "id": "11830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11830" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "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": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P30543", "url": "https://www.uniprot.org/uniprotkb/P30543" } ], "pmid": "" }, { "name": "positive 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"name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35426", "url": "https://www.uniprot.org/uniprotkb/P35426" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P35426", "url": "https://www.uniprot.org/uniprotkb/P35426" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0004693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004693", "evidence": [ { "database": "UniProtKB", "id": "P35426", "url": "https://www.uniprot.org/uniprotkb/P35426" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "P35426", "url": "https://www.uniprot.org/uniprotkb/P35426" } ], "pmid": "" }, { "name": "protein 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"glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 844, "start_aa": "Asn", "end_pos": 844, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn844", "evidence": [ { "id": "P97846", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97846#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97846-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Asn861", "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": 861, "start_aa": "Asn", "end_pos": 861, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn861", "evidence": [ { "id": "P97846", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97846#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97846-1", "start_pos": "949", "end_pos": "949", "site_lbl": "Asn949", "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": 949, "start_aa": "Asn", "end_pos": 949, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn949", "evidence": [ { "id": "P97846", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97846#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97846-1", "start_pos": "957", "end_pos": "957", "site_lbl": "Asn957", "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": 957, "start_aa": "Asn", "end_pos": 957, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn957", "evidence": [ { "id": "P97846", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P97846#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P97846-1", "start_pos": "1380", "end_pos": "1380", "site_lbl": "Ser1380", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P97846", "url": "https://www.uniprot.org/uniprotkb/P97846" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "Q01134-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 453, "chemical_mass": 51824.0, "gene_names": "Chka;CK-R;Chka;Chk;Ckr", "protein_name": "Choline kinase alpha", "disease": [ { "disease_id": "DOID:0050912", "name": "colon adenoma", "description": "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050912", "evidence": [ { "id": "0050912", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050912" } ], "weight": 0.0 }, { "disease_id": "DOID:10907", "name": "microcephaly", "description": "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.", "url": "https://disease-ontology.org/term/DOID:10907", "evidence": [ { "id": "10907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10907" } ], "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: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: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 } ], "biological_process": [ { "name": "choline metabolic process", "id": "GO:0019695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019695", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "ethanolamine metabolic process", "id": "GO:0006580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006580", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "CDP-choline pathway", "id": "GO:0006657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006657", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "response to 3-methylcholanthrene", "id": "GO:1904681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904681", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "phosphatidylcholine biosynthetic process", "id": "GO:0006656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006656", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "phosphatidylethanolamine biosynthetic process", "id": "GO:0006646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006646", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "lipid droplet disassembly", "id": "GO:1905691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905691", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" } ], "molecular_function": [ { "name": "choline binding", "id": "GO:0033265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033265", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "choline kinase activity", "id": "GO:0004103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004103", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "ethanolamine kinase activity", "id": "GO:0004305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004305", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q01134", "url": "https://www.uniprot.org/uniprotkb/Q01134" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01134-1", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "Q1WIM2", "url": "https://www.uniprot.org/uniprotkb/Q1WIM2" } ], "pmid": "" } ], "biological_process": [ { "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": "Q1WIM2", "url": "https://www.uniprot.org/uniprotkb/Q1WIM2" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q1WIM2", "url": "https://www.uniprot.org/uniprotkb/Q1WIM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q1WIM2-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Asn211", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G07799LX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 211, "start_aa": "Asn", "end_pos": 211, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn211", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G19379ID", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 211, "start_aa": "Asn", "end_pos": 211, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn211", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G25987BV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 211, "start_aa": "Asn", "end_pos": 211, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn211", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G29651HS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 211, "start_aa": "Asn", "end_pos": 211, 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"https://www.alliancegenome.org/disease/DOID:4074" } ], "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:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "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 } ], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of vitamin D biosynthetic process", "id": "GO:0010957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010957", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to dsRNA", "id": "GO:0071359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071359", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to diterpene", "id": "GO:1904630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904630", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to glucoside", "id": "GO:1904632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904632", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to peptide", "id": "GO:1901653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901653", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "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": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of interleukin-12 production", "id": "GO:0032695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032695", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "mammary gland involution", "id": "GO:0060056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060056", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to nicotine", "id": "GO:0071316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071316", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "positive regulation of hyaluronan biosynthetic process", "id": "GO:1900127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900127", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "positive regulation of miRNA metabolic process", "id": "GO:2000630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000630", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to interleukin-6", "id": "GO:0071354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071354", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to carbohydrate stimulus", "id": "GO:0071322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071322", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cellular response to interleukin-17", "id": "GO:0097398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097398", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "positive regulation of macromolecule biosynthetic process", "id": "GO:0010557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010557", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" } ], "cellular_component": [ { "name": "I-kappaB/NF-kappaB complex", "id": "GO:0033256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033256", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q63369", "url": "https://www.uniprot.org/uniprotkb/Q63369" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/O35826" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O35826-1", "start_pos": "110", "end_pos": "110", "site_lbl": "His110", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss UDP-N-acetylglucosamine 2-epimerase activity. No effect on N-acylmannosamine kinase activity. Partial reduction of the dimerization process.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] }, { "uniprot_canonical_ac": "O35826-1", "start_pos": "132", "end_pos": "132", "site_lbl": "His132", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss UDP-N-acetylglucosamine 2-epimerase activity. No effect on N-acylmannosamine kinase activity. Partial reduction of the dimerization process.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] }, { "uniprot_canonical_ac": "O35826-1", "start_pos": "155", "end_pos": "155", "site_lbl": "His155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss UDP-N-acetylglucosamine 2-epimerase activity. No effect on N-acylmannosamine kinase activity. Strong reduction of the dimerization process.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] }, { "uniprot_canonical_ac": "O35826-1", "start_pos": "157", "end_pos": "157", "site_lbl": "His157", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss UDP-N-acetylglucosamine 2-epimerase activity. No effect on N-acylmannosamine kinase activity. Strong reduction of the dimerization process.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] }, { "uniprot_canonical_ac": "O35826-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Asp413", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "K", "comment": "No effect on UDP-N-acetylglucosamine 2-epimerase activity. Does not affect feedback inhibition by CMP-Neu5Ac. Loss of N-acylmannosamine kinase activity. Does not interfere with oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on UDP-N-acetylglucosamine 2-epimerase activity. Does not affect feedback inhibition by CMP-Neu5Ac. Loss of N-acylmannosamine kinase activity. Does not interfere with oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] }, { "uniprot_canonical_ac": "O35826-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Arg420", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "No effect on UDP-N-acetylglucosamine 2-epimerase activity. Does not affect feedback inhibition by CMP-Neu5Ac. Loss of N-acylmannosamine kinase activity. Does not interfere with oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] }, { "uniprot_canonical_ac": "O35826-1", "start_pos": "49", "end_pos": "49", "site_lbl": "His49", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss UDP-N-acetylglucosamine 2-epimerase activity. No effect on N-acylmannosamine kinase activity. Does not interfere with enzyme oligomerization.", "evidence": [ { "database": "UniProtKB", "id": "O35826", "url": "https://www.uniprot.org/uniprotkb/O35826" }, { "database": "PubMed", "id": "10497249", "url": "https://glygen.org/publication/PubMed/10497249" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "P11915-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 547, "chemical_mass": 58813.0, "gene_names": "Podn;Scp2;NSLIPTR;Podn;SCPx;Scp-2;Scp2", "protein_name": "Sterol carrier protein 2", "disease": [ { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "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:2742", "name": "auditory system disease", "description": "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.", "url": "https://disease-ontology.org/term/DOID:2742", "evidence": [ { "id": "2742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2742" } ], "weight": 0.0 }, { "disease_id": "DOID:5723", "name": "optic atrophy", "description": "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.", "url": "https://disease-ontology.org/term/DOID:5723", "evidence": [ { "id": "5723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5723" } ], "weight": 0.0 }, { "disease_id": "DOID:905", "name": "Zellweger syndrome", "description": "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.", "url": "https://disease-ontology.org/term/DOID:905", "evidence": [ { "id": "905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:905" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An 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"GO:1904109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904109", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "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": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "cellular response to cholesterol", "id": "GO:0071397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071397", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "intracellular cholesterol transport", "id": "GO:0032367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "positive regulation of cholesterol biosynthetic process", "id": "GO:0045542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045542", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "progesterone biosynthetic process", "id": "GO:0006701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006701", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "glycerol metabolic process", "id": "GO:0006071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006071", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "diterpenoid metabolic process", "id": "GO:0016101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016101", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "acylglycerol metabolic process", "id": "GO:0006639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006639", "evidence": [ { "database": "UniProtKB", "id": "P11915", "url": "https://www.uniprot.org/uniprotkb/P11915" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": 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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: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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": 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"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: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: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: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:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "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:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "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:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "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: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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:1673", "name": "pneumothorax", "description": "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall.", "url": "https://disease-ontology.org/term/DOID:1673", "evidence": [ { "id": "1673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1673" } ], "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: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:2352", "name": "hemochromatosis", "description": "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.", "url": "https://disease-ontology.org/term/DOID:2352", "evidence": [ { "id": "2352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2352" } ], "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:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "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: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: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: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "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:5453", "name": "pulmonary venoocclusive disease", "description": "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension.", "url": "https://disease-ontology.org/term/DOID:5453", "evidence": [ { "id": "5453", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5453" } ], "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: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:750", "name": "peptic ulcer disease", "description": "", "url": "https://disease-ontology.org/term/DOID:750", "evidence": [ { "id": "750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:750" } ], "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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8440", "name": "ileus", "description": "", "url": "https://disease-ontology.org/term/DOID:8440", "evidence": [ { "id": "8440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8440" } ], "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:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "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 }, { "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: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 } ], "biological_process": [ { "name": "response to 3-methylcholanthrene", "id": "GO:1904681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904681", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "response to arachidonate", "id": "GO:1904550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904550", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "wound healing involved in inflammatory response", "id": "GO:0002246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002246", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell apoptotic process", "id": "GO:1904036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904036", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "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": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "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": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P06762", "url": "https://www.uniprot.org/uniprotkb/P06762" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": 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"https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "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": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "neuropilin signaling pathway", "id": "GO:0038189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038189", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "actin filament branching", "id": "GO:0090135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090135", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "establishment of Golgi localization", "id": "GO:0051683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051683", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of pseudopodium assembly", "id": "GO:0031274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031274", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "adherens junction organization", "id": "GO:0034332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034332", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "regulation of attachment of spindle microtubules to kinetochore", "id": "GO:0051988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051988", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0072384", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of cytokinesis", "id": "GO:0032467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032467", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "cardiac conduction system development", "id": "GO:0003161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003161", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "regulation of lamellipodium assembly", "id": "GO:0010591", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048664", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of synapse structural plasticity", "id": "GO:0051835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051835", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in lung morphogenesis", "id": "GO:0060501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060501", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "submandibular salivary gland formation", "id": "GO:0060661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060661", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "establishment or maintenance of apical/basal cell polarity", "id": "GO:0035088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035088", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "regulation of exocytosis", "id": "GO:0017157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017157", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "cardiac neural crest cell migration involved in outflow tract morphogenesis", "id": "GO:0003253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003253", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "regulation of modification of postsynaptic structure", "id": "GO:0099159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099159", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "heart process", "id": "GO:0003015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003015", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "anatomical structure morphogenesis", "id": "GO:0009653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009653", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "apolipoprotein A-I receptor binding", "id": "GO:0034191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034191", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "thioesterase binding", "id": "GO:0031996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031996", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "GTP-dependent protein binding", "id": "GO:0030742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030742", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase kinase kinase binding", "id": "GO:0031435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031435", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "GBD domain binding", "id": "GO:0032427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032427", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CFN2-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Tyr64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8CFN2", "url": "https://www.uniprot.org/uniprotkb/Q8CFN2" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "O88778-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O88778", "url": "https://www.uniprot.org/uniprotkb/O88778" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 3938, "chemical_mass": 418424.0, "gene_names": "Bsn", "protein_name": "Protein bassoon", "disease": [ { "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 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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:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0080728", "name": "Ehlers-Danlos syndrome arthrochalasia type 2", "description": "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21.", "url": 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the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11.", "url": "https://disease-ontology.org/term/DOID:0090126", "evidence": [ { "id": "0090126", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090126" } ], "weight": 0.0 }, { "disease_id": "DOID:0110339", "name": "osteogenesis imperfecta type 3", "description": "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.", "url": "https://disease-ontology.org/term/DOID:0110339", "evidence": [ { "id": "0110339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110339" } ], "weight": 0.0 }, { "disease_id": "DOID:0110340", "name": "osteogenesis imperfecta type 4", "description": "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone 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:12347", "name": "osteogenesis imperfecta", "description": "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.", "url": "https://disease-ontology.org/term/DOID:12347", "evidence": [ { "id": "12347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12347" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated 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"id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity", "id": "GO:0047323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047323", "evidence": [ { "database": "UniProtKB", "id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": 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"id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "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": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "histone H4K5 acetyltransferase activity", "id": "GO:0043995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043995", "evidence": [ { "database": "UniProtKB", "id": "Q00972", "url": "https://www.uniprot.org/uniprotkb/Q00972" } ], "pmid": "" }, { "name": "histone H4K8 acetyltransferase activity", "id": "GO:0043996", "url": 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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: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: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: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:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "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: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: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: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 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"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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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: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: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: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: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": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "response to 3-methylcholanthrene", "id": "GO:1904681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904681", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cGMP biosynthetic process", "id": "GO:0006182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006182", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "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": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle contraction", "id": "GO:0060452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060452", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "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": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "receptor guanylyl cyclase signaling pathway", "id": "GO:0007168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007168", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "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": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "regulation of atrial cardiac muscle cell membrane repolarization", "id": "GO:0060372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060372", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1902514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902514", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "positive regulation of potassium ion export across plasma membrane", "id": "GO:1903766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903766", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "negative regulation of collecting lymphatic vessel constriction", "id": "GO:1903815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903815", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "negative regulation of JUN kinase activity", "id": "GO:0043508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043508", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "regulation of body fluid levels", "id": "GO:0050878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050878", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "sodium ion export across plasma membrane", "id": "GO:0036376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036376", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cGMP metabolic process", "id": "GO:0046068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046068", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "hormone receptor binding", "id": "GO:0051427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051427", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "neuropeptide receptor binding", "id": "GO:0071855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071855", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "mast cell granule", "id": "GO:0042629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042629", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" }, { "name": "glycinergic synapse", "id": "GO:0098690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098690", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P01161-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P01161", "url": "https://www.uniprot.org/uniprotkb/P01161" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "P05370-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 515, "chemical_mass": 59376.0, "gene_names": "G6pdx;G6pdx;G6pd", "protein_name": "Glucose-6-phosphate 1-dehydrogenase", "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:0051003", "name": "congenital nonspherocytic hemolytic anemia 1", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia.", "url": "https://disease-ontology.org/term/DOID:0051003", "evidence": [ { "id": "0051003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051003" } ], "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: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: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: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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "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:13628", "name": "favism", "description": "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans.", "url": "https://disease-ontology.org/term/DOID:13628", "evidence": [ { "id": "13628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13628" } ], "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: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: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:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID:2383", "name": "neonatal jaundice", "description": "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant.", "url": "https://disease-ontology.org/term/DOID:2383", "evidence": [ { "id": "2383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2383" } ], "weight": 0.0 }, { "disease_id": "DOID:2861", "name": "congenital nonspherocytic hemolytic anemia", "description": "", "url": "https://disease-ontology.org/term/DOID:2861", "evidence": [ { "id": "2861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2861" } ], "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:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "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: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: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: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: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:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "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: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, 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006741", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "erythrocyte maturation", "id": "GO:0043249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043249", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "regulation of multicellular organism growth", "id": "GO:0040014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040014", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "pentose-phosphate shunt", "id": "GO:0006098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006098", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "pentose-phosphate shunt, oxidative branch", "id": "GO:0009051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009051", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "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": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002033", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "pentose biosynthetic process", "id": "GO:0019322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019322", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "response to iron(III) ion", "id": "GO:0010041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010041", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel", "id": "GO:1904879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904879", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "NADPH regeneration", "id": "GO:0006740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006740", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "ribose phosphate biosynthetic process", "id": "GO:0046390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046390", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "angiotensin-mediated vasoconstriction involved in regulation of systemic arterial blood pressure", "id": "GO:0001998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001998", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "glucose-6-phosphate dehydrogenase activity", "id": "GO:0004345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004345", "evidence": [ { "database": "UniProtKB", "id": "P05370", "url": "https://www.uniprot.org/uniprotkb/P05370" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", 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"batch.rat.2" }, { "uniprot_canonical_ac": "P23928-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P23928", "url": "https://www.uniprot.org/uniprotkb/P23928" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 175, "chemical_mass": 20089.0, "gene_names": "Cryab;AACRYA;Cryab", "protein_name": "Alpha-crystallin B chain", "disease": [ { "disease_id": "DOID:0080093", "name": "adult-onset myofibrillar myopathy 2A", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23.", "url": "https://disease-ontology.org/term/DOID:0080093", "evidence": [ { "id": "0080093", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080093" } ], "weight": 0.0 }, { "disease_id": "DOID:0080309", "name": "infantile-onset myofibrillar myopathy-2B", "description": "A myofibrillar myopathy 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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: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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from 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epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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: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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "weight": 0.0 }, { "disease_id": "DOID:646", "name": "viral encephalitis", "description": "An encephalitis that involves inflammation of the brain caused by viral infection.", "url": "https://disease-ontology.org/term/DOID:646", "evidence": [ { "id": "646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:646" } ], "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: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: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "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:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "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: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 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097352", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "negative regulation of autophagosome assembly", "id": "GO:1902902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902902", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to other organism", "id": "GO:0051707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051707", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate biosynthetic process", "id": "GO:0036092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036092", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "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": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "macroautophagy", "id": "GO:0016236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016236", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "early endosome to late endosome transport", "id": "GO:0045022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045022", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to iron(II) ion", "id": "GO:0010040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010040", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "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": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "engulfment of apoptotic cell", "id": "GO:0043652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043652", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "mitotic metaphase chromosome alignment", "id": "GO:0007080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007080", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "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": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "cellular response to oxygen-glucose deprivation", "id": "GO:0090650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090650", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": "mitophagy", "id": "GO:0000423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000423", "evidence": [ { "database": "UniProtKB", "id": "Q91XJ1", "url": "https://www.uniprot.org/uniprotkb/Q91XJ1" } ], "pmid": "" }, { "name": 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"name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "BLOC-1 complex", "id": "GO:0031083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031083", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome membrane", "id": "GO:0098944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098944", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" } ], "biological_process": [ { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "endocytic recycling", "id": "GO:0032456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032456", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "synaptic vesicle to endosome fusion", "id": "GO:0016189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016189", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "vesicle fusion", "id": "GO:0006906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006906", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "vesicle docking", "id": "GO:0048278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048278", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "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": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "organelle fusion", "id": "GO:0048284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048284", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "vesicle organization", "id": "GO:0016050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016050", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" } ], "molecular_function": [ { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G3V7P1-1", "start_pos": "139", "end_pos": "139", "site_lbl": "Ser139", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ] } ] }, { "uniprot_canonical_ac": "G3V7P1-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Ser142", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "G3V7P1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/G3V7P1" } ] } ] }, { "uniprot_canonical_ac": "G3V7P1-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ser218", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ] } ] }, { "uniprot_canonical_ac": "G3V7P1-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ser225", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "G3V7P1", "url": "https://www.uniprot.org/uniprotkb/G3V7P1" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "F1LMY4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 5035, "chemical_mass": 565483.0, "gene_names": "Ryr1", "protein_name": "Ryanodine receptor 1", "disease": [ { "disease_id": "DOID:0080990", "name": "King Denborough syndrome", "description": "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome.", "url": "https://disease-ontology.org/term/DOID:0080990", "evidence": [ { "id": "0080990", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080990" } ], "weight": 0.0 }, { "disease_id": "DOID:0080991", "name": "congenital myopathy 1B", "description": "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form.", "url": "https://disease-ontology.org/term/DOID:0080991", "evidence": [ { "id": "0080991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080991" } ], "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: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:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "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:2256", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone.", "url": "https://disease-ontology.org/term/DOID:2256", "evidence": [ { "id": "2256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2256" } ], "weight": 0.0 }, { "disease_id": "DOID:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "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:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "biological_process": [ { "name": "ossification involved in bone maturation", "id": "GO:0043931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043931", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "regulation of cytosolic calcium ion concentration", "id": "GO:0051480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051480", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol", "id": "GO:0051209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051209", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "F1LMY4", "url": "https://www.uniprot.org/uniprotkb/F1LMY4" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": 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"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: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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", 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"https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of protein localization to early endosome", "id": "GO:1902966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902966", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of connective tissue replacement", "id": "GO:1905205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905205", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of establishment of endothelial barrier", "id": "GO:1903140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903140", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "negative regulation of bicellular tight junction assembly", "id": "GO:1903347", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": 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rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton organization", "id": "GO:0030866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030866", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "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": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "chromosome condensation", "id": "GO:0030261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030261", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of cellular response to hypoxia", "id": "GO:1900037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900037", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "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": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of keratinocyte differentiation", "id": "GO:0045616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045616", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "centrosome duplication", "id": "GO:0051298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051298", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "mRNA destabilization", "id": "GO:0061157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061157", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of cell junction assembly", "id": "GO:1901888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901888", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor production", "id": "GO:0090271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090271", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of centrosome duplication", "id": "GO:0010825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010825", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "regulation of angiotensin-activated signaling pathway", "id": "GO:0110061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110061", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "negative regulation of protein localization to lysosome", "id": "GO:0150033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150033", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "cellular response to acetylcholine", "id": "GO:1905145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905145", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "host-mediated perturbation of viral process", "id": "GO:0044788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044788", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62868", "url": "https://www.uniprot.org/uniprotkb/Q62868" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. 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Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein kinase A catalytic subunit binding", "id": "GO:0034236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034236", "evidence": [ { "database": "UniProtKB", "id": "B0LPN4", "url": "https://www.uniprot.org/uniprotkb/B0LPN4" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "B0LPN4", "url": "https://www.uniprot.org/uniprotkb/B0LPN4" } ], "pmid": "" }, { "name": "calmodulin 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encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "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: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: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: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: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: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": 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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: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: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: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: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: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:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "nitric oxide metabolic process", "id": "GO:0046209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046209", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "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": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-nitrosylation", "id": "GO:0018119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018119", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "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": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "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": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "regulation of sodium ion transport", "id": "GO:0002028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002028", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "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": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of insulin secretion", "id": "GO:0046676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046676", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of calcium ion transport", "id": "GO:0051926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051926", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "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": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "nitric oxide mediated signal transduction", "id": "GO:0007263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007263", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "cellular response to epinephrine stimulus", "id": "GO:0071872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071872", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "nitric oxide biosynthetic process", "id": "GO:0006809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006809", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to heat", "id": "GO:0009408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009408", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transmembrane transport", "id": "GO:1902307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902307", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of iron ion transmembrane transport", "id": "GO:0034760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034760", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "id": "GO:0071879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071879", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of hydrolase activity", "id": "GO:0051346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051346", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "L-arginine catabolic process", "id": "GO:0006527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006527", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "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": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "nitric oxide-cGMP-mediated signaling", "id": "GO:0038060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038060", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of serotonin uptake", "id": "GO:0051612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051612", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "synaptic signaling by nitric oxide", "id": "GO:0099163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099163", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to nitric oxide", "id": "GO:0071731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071731", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to vitamin B3", "id": "GO:0033552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033552", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of the force of heart contraction", "id": "GO:0098735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098735", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane potential", "id": "GO:0060078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060078", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106071", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of hepatic stellate cell contraction", "id": "GO:0061875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061875", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "negative regulation of monoatomic ion transport", "id": "GO:0043271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043271", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "regulation of blood circulation", "id": "GO:1903522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903522", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "response to decreased oxygen levels", "id": "GO:0036293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036293", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": "https://www.uniprot.org/uniprotkb/P29476" } ], "pmid": "" }, { "name": "system process", "id": "GO:0003008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003008", "evidence": [ { "database": "UniProtKB", "id": "P29476", "url": 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"database": "UniProtKB", "id": "Q793F9", "url": "https://www.uniprot.org/uniprotkb/Q793F9" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "Q793F9", "url": "https://www.uniprot.org/uniprotkb/Q793F9" } ], "pmid": "" }, { "name": "viral budding from plasma membrane", "id": "GO:0046761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046761", "evidence": [ { "database": "UniProtKB", "id": "Q793F9", "url": "https://www.uniprot.org/uniprotkb/Q793F9" } ], "pmid": "" }, { "name": "midbody abscission", "id": "GO:0061952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061952", "evidence": [ { "database": "UniProtKB", "id": "Q793F9", "url": "https://www.uniprot.org/uniprotkb/Q793F9" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": 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"cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": 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"https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": "https://www.uniprot.org/uniprotkb/Q9R0T4" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q9R0T4", "url": 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cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": 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"https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "CA3 pyramidal cell dendrite", "id": "GO:0097442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097442", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "basal dendrite", "id": "GO:0097441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097441", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dendritic growth cone", "id": "GO:0044294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044294", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "proximal neuron projection", "id": "GO:1990769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990769", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "apical dendrite", "id": "GO:0097440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097440", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dendritic filopodium", "id": "GO:1902737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902737", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "proximal dendrite", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dystroglycan binding", "id": "GO:0002162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002162", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": "https://www.uniprot.org/uniprotkb/P15146" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P15146", "url": 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inflammation and ulceration of the mucous membranes lining the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080178", "evidence": [ { "id": "0080178", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080178" } ], "weight": 0.0 }, { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0111579", "name": "asthma, nasal polyps, and aspirin intolerance", "description": "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps.", "url": "https://disease-ontology.org/term/DOID:0111579", "evidence": [ { "id": "0111579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111579" } ], "weight": 0.0 }, { "disease_id": "DOID:10112", "name": "sleeping sickness", "description": "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances.", "url": "https://disease-ontology.org/term/DOID:10112", "evidence": [ { "id": "10112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10112" } ], "weight": 0.0 }, { "disease_id": "DOID:10247", "name": "pleurisy", "description": "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs.", "url": "https://disease-ontology.org/term/DOID:10247", "evidence": [ { "id": "10247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10247" } ], "weight": 0.0 }, { "disease_id": "DOID:10320", "name": "asbestosis", "description": "A pneumoconiosis caused by inhalation and retention of asbestos fibers.", "url": "https://disease-ontology.org/term/DOID:10320", "evidence": [ { "id": "10320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10320" } ], "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: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: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:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. 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:11044", "name": "gastroschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:11044", "evidence": [ { "id": "11044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11044" } ], "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: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: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:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "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: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: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: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: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: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:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "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: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:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood.", "url": "https://disease-ontology.org/term/DOID:13413", "evidence": [ { "id": "13413", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13413" } ], "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:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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: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: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: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:2237", "name": "hepatitis", "description": "A liver disease that is characterized as an inflammation of the liver.", "url": "https://disease-ontology.org/term/DOID:2237", "evidence": [ { "id": "2237", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2237" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "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: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: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: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. 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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "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:607", "name": "paraplegia", "description": "", "url": "https://disease-ontology.org/term/DOID:607", "evidence": [ { "id": "607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:607" } ], "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: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: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: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: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:8680", "name": "alcoholic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8680", "evidence": [ { "id": "8680", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8680" } ], "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:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "nitric-oxide synthase activity", "id": "GO:0004517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004517", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "tetrahydrobiopterin binding", "id": "GO:0034617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034617", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "nitric-oxide synthase binding", "id": "GO:0050998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050998", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "arginine binding", "id": "GO:0034618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034618", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to redox state", "id": "GO:0071461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071461", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "peptidyl-cysteine S-nitrosylation", "id": "GO:0018119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018119", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "nitric oxide mediated signal transduction", "id": "GO:0007263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007263", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "Fc-gamma receptor signaling pathway involved in phagocytosis", "id": "GO:0038096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038096", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "Q06518", "url": "https://www.uniprot.org/uniprotkb/Q06518" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", 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"chemical_mass": 11109.0, "gene_names": "Cxcl3;Cinc-2;Cinc2;Cxcl3;Gm1960", "protein_name": "C-X-C motif chemokine 3", "disease": [ { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "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": 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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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"name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "response to other organism", "id": "GO:0051707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051707", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "sensory perception of touch", "id": "GO:0050975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050975", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "cellular response to isoquinoline 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"" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": 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"excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" 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"phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell differentiation", "id": "GO:0051151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051151", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "biogenic amine metabolic process", "id": "GO:0006576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006576", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "glucocorticoid metabolic process", "id": "GO:0008211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008211", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "ventricular system development", "id": "GO:0021591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021591", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine development", "id": "GO:0061000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061000", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of locomotion involved in locomotory behavior", "id": "GO:0090327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090327", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "genomic imprinting", "id": "GO:0071514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071514", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "proprioception", "id": "GO:0019230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019230", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "principal sensory nucleus of trigeminal nerve development", "id": "GO:0021740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021740", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "cellular response to potassium ion", "id": "GO:0035865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035865", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of dendrite extension", "id": "GO:1903860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903860", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "neuron maturation", "id": "GO:0042551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "positive regulation of microtubule nucleation", "id": "GO:0090063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090063", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "cardiolipin metabolic process", "id": "GO:0032048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032048", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of gene expression via chromosomal CpG island methylation", "id": "GO:0044027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044027", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "positive regulation of anterograde dense core granule transport", "id": "GO:1901953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901953", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "ventricular cardiac muscle tissue development", "id": "GO:0003229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003229", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "regulation of action potential firing threshold", "id": "GO:0099611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099611", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "negative regulation of respiratory gaseous exchange", "id": "GO:1903941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903941", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "response to bisphenol A", "id": "GO:1903925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903925", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange", "id": "GO:0043576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043576", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q00566", "url": "https://www.uniprot.org/uniprotkb/Q00566" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": 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membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "positive regulation of protein processing in phagocytic vesicle", "id": "GO:1903923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903923", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cytoplasmic actin-based contraction involved in cell motility", "id": "GO:0060327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060327", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "positive regulation of inositol trisphosphate biosynthetic process", "id": "GO:0032962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032962", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "membrane protein ectodomain proteolysis", "id": "GO:0006509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006509", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "regulated exocytosis", "id": "GO:0045055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045055", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "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": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "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": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "actin filament bundle assembly", "id": "GO:0051017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051017", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "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": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "actomyosin structure organization", "id": "GO:0031032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031032", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "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": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cytokinetic process", "id": "GO:0032506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032506", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "blood vessel endothelial cell migration", "id": "GO:0043534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043534", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "follicle-stimulating hormone signaling pathway", "id": "GO:0042699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042699", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "vesicle targeting", "id": "GO:0006903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006903", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "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": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "establishment of meiotic spindle localization", "id": "GO:0051295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051295", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "monocyte differentiation", "id": "GO:0030224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030224", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "meiotic spindle organization", "id": "GO:0000212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000212", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "establishment of T cell polarity", "id": "GO:0001768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001768", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "uropod organization", "id": "GO:0032796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032796", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "negative regulation of actin filament severing", "id": "GO:1903919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903919", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "regulation of actin filament organization", "id": "GO:0110053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110053", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell migration", "id": "GO:1904753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904753", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "actin filament bundle distribution", "id": "GO:0070650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070650", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "regulation of plasma membrane repair", "id": "GO:1905684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905684", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "cortical granule exocytosis", "id": "GO:0060471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060471", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "regulation of actin filament-based process", "id": "GO:0032970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032970", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "G-protein alpha-subunit binding", "id": "GO:0001965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001965", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "protein-membrane adaptor activity", "id": "GO:0043495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043495", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": "https://www.uniprot.org/uniprotkb/Q62812" } ], "pmid": "" }, { "name": "follicle-stimulating hormone receptor binding", "id": "GO:0031762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031762", "evidence": [ { "database": "UniProtKB", "id": "Q62812", "url": 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"name": "positive regulation of developmental process", "id": "GO:0051094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051094", "evidence": [ { "database": "UniProtKB", "id": "P68403", "url": "https://www.uniprot.org/uniprotkb/P68403" } ], "pmid": "" } ], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "P68403", "url": "https://www.uniprot.org/uniprotkb/P68403" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P68403", "url": "https://www.uniprot.org/uniprotkb/P68403" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P68403", "url": "https://www.uniprot.org/uniprotkb/P68403" } ], "pmid": "" }, { "name": "cytoplasm", "id": 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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: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: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: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: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: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:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "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": "positive regulation of appetite", "id": "GO:0032100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032100", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "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": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway", "id": "GO:0007197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007197", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "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": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "regulation of NMDA receptor activity", "id": "GO:2000310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000310", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "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": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "estrous cycle", "id": "GO:0044849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044849", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide biosynthetic process", "id": "GO:0045019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045019", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "acute inflammatory response to antigenic stimulus", "id": "GO:0002438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002438", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "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": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "negative regulation of luteinizing hormone secretion", "id": "GO:0033685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033685", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "sperm ejaculation", "id": "GO:0042713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042713", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting opioid receptor signaling pathway", "id": "GO:0031635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031635", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "G protein-coupled opioid receptor signaling pathway", "id": "GO:0038003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038003", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "negative regulation of Wnt protein secretion", "id": "GO:0061358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061358", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "regulation of cellular response to stress", "id": 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"https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "spine apparatus", "id": "GO:0097444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097444", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled opioid receptor activity", "id": "GO:0004985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004985", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "G-protein beta-subunit binding", "id": "GO:0031681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031681", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "19959593", "url": "https://glygen.org/publication/PubMed/19959593" }, { "database": "iPTMnet", "id": "P33535", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P33535" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes agonist-induced G protein-independent receptor internalization; when associated with A-91, A-96 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "10488100", "url": "https://glygen.org/publication/PubMed/10488100" }, { "database": "PubMed", "id": "19959593", "url": "https://glygen.org/publication/PubMed/19959593" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "Decrease in phosphorylation, no decrease in G-protein binding.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "10488100", "url": "https://glygen.org/publication/PubMed/10488100" }, { "database": "PubMed", "id": "19959593", "url": "https://glygen.org/publication/PubMed/19959593" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P33535", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P33535" }, { "database": "PubMed", "id": "10908300", "url": "https://glygen.org/publication/PubMed/10908300" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "363", "end_pos": "363", "site_lbl": "Ser363", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": 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Impairs agonist affinity and agonist-induced inhibition of adenylate cyclase.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "8051154", "url": "https://glygen.org/publication/PubMed/8051154" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] }, { "sequence_org": "D", "sequence_mut": "E", "comment": "Impairs agonist affinity and increases agonist-induced inhibition of adenylate cyclase.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "8051154", "url": "https://glygen.org/publication/PubMed/8051154" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on constitutive activation.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "8051154", "url": "https://glygen.org/publication/PubMed/8051154" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Asp164", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Reduces basal activity.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Constitutive active.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] }, { "sequence_org": "D", "sequence_mut": "M", "comment": "Constitutive active.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] }, { "sequence_org": "D", "sequence_mut": "Q", "comment": "Constitutive active.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] }, { "sequence_org": "D", "sequence_mut": "Y", "comment": "Constitutive active.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "11580279", "url": "https://glygen.org/publication/PubMed/11580279" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "180", "end_pos": "180", "site_lbl": "Thr180", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Impairs ARRB2- and GRK3-mediated receptor desensitization.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "11060299", "url": "https://glygen.org/publication/PubMed/11060299" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Leu275", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "No effect on constitutive activation. Some constitutive activity; when associated with K-279.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "12356297", "url": "https://glygen.org/publication/PubMed/12356297" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Thr279", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "D", "comment": "Receptor inactivation.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "12356297", "url": "https://glygen.org/publication/PubMed/12356297" }, { "database": "PubMed", "id": "11695897", "url": "https://glygen.org/publication/PubMed/11695897" } ] }, { "sequence_org": "T", "sequence_mut": "K", "comment": "Constitutive active. Some constitutive activity; when associated with E-275.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "12356297", "url": "https://glygen.org/publication/PubMed/12356297" }, { "database": "PubMed", "id": "11695897", "url": "https://glygen.org/publication/PubMed/11695897" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "297", "end_pos": "297", "site_lbl": "His297", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Impairs agonist affinity and increases agonist-induced inhibition of adenylate cyclase.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "8051154", "url": "https://glygen.org/publication/PubMed/8051154" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Tyr336", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes agonist-induced G protein-independent receptor internalization; when associated with A-91, A-96 and A-166.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "10488100", "url": "https://glygen.org/publication/PubMed/10488100" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Cys346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No change in palmitoylation. No change in palmitoylation; when associated with A-351.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "9877183", "url": "https://glygen.org/publication/PubMed/9877183" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Cys351", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No change in palmitoylation; when associated with A-346.", "evidence": [ { "database": "UniProtKB", "id": "P33535", "url": "https://www.uniprot.org/uniprotkb/P33535" }, { "database": "PubMed", "id": "9877183", "url": "https://glygen.org/publication/PubMed/9877183" } ] } ] }, { "uniprot_canonical_ac": "P33535-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Tyr91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Abolishes agonist-induced G protein-independent receptor internalization; when 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"reference_species": "Rattus norvegicus [10116]" } ], "length": 378, "chemical_mass": 43448.0, "gene_names": "Spmap2;Spmap2;Theg", "protein_name": "Sperm microtubule associated protein 2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q5XHX8", "url": "https://www.uniprot.org/uniprotkb/Q5XHX8" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q5XHX8", "url": "https://www.uniprot.org/uniprotkb/Q5XHX8" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q5XHX8", "url": "https://www.uniprot.org/uniprotkb/Q5XHX8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5XHX8-1", "start_pos": "290", "end_pos": "290", "site_lbl": "Ser290", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5XHX8", "url": "https://www.uniprot.org/uniprotkb/Q5XHX8" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q5XHX8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5XHX8" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "P61972-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 127, "chemical_mass": 14478.0, "gene_names": "Nutf2;NTF2;Ntf2;Nutf2l1;Nutf2", "protein_name": "Nuclear transport factor 2", "disease": [ { "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 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": 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No effect on proteins nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "9368653", "url": "https://glygen.org/publication/PubMed/9368653" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Tyr19", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Loss of interaction with GDP-bound RAN. Loss of GDP-bound RAN nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "11038179", "url": "https://glygen.org/publication/PubMed/11038179" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Asp23", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on interaction with GDP-bound RAN. 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Inhibits the nuclear import of nuclear localization signal-containing proteins.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "11038179", "url": "https://glygen.org/publication/PubMed/11038179" }, { "database": "PubMed", "id": "15522285", "url": "https://glygen.org/publication/PubMed/15522285" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "No effect on interaction with GDP-bound RAN. No effect on interaction with nucleoporins. No effect on proteins nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "9368653", "url": "https://glygen.org/publication/PubMed/9368653" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Glu42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Loss of interaction with GDP-bound RAN. Loss of GDP-bound RAN nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "11038179", "url": "https://glygen.org/publication/PubMed/11038179" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Loss of interaction with GDP-bound RAN. No effect on interaction with nucleoporins. Loss of GDP-bound RAN and other proteins nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "9368653", "url": "https://glygen.org/publication/PubMed/9368653" }, { "database": "PubMed", "id": "9822603", "url": "https://glygen.org/publication/PubMed/9822603" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ile64", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "No effect on homodimerization. Decreased interaction with GDP-bound RAN. Loss of interaction with nucleoporins and localization to the nuclear pore complex.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "15522285", "url": "https://glygen.org/publication/PubMed/15522285" } ] }, { "sequence_org": "I", "sequence_mut": "Q", "comment": "No effect on homodimerization. Loss of interaction with GDP-bound RAN. Decreased interaction with nucleoporins and localization to the nuclear pore complex.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "15522285", "url": "https://glygen.org/publication/PubMed/15522285" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "66", "end_pos": "66", "site_lbl": "His66", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "Loss of interaction with GDP-bound RAN. No effect on interaction with nucleoporins. Decreased proteins nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "9368653", "url": "https://glygen.org/publication/PubMed/9368653" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Trp7", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "No effect on interaction with GDP-bound RAN. Decreased interaction with nucleoporins. Decreased localization to the nuclear pore complex. Decreased GDP-bound RAN and other proteins nuclear import.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "10543952", "url": "https://glygen.org/publication/PubMed/10543952" } ] } ] }, { "uniprot_canonical_ac": "P61972-1", "start_pos": "84", "end_pos": "84", "site_lbl": "Met84", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "E", "comment": "Decreased homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "P61972", "url": "https://www.uniprot.org/uniprotkb/P61972" }, { "database": "PubMed", "id": "11846560", "url": "https://glygen.org/publication/PubMed/11846560" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "D3ZZC3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZZC3", "url": "https://www.uniprot.org/uniprotkb/D3ZZC3" } ], "common_name": "Rat", "glygen_name": "Rat", 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"name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P08699", "url": "https://www.uniprot.org/uniprotkb/P08699" } ], "pmid": "" }, { "name": "response to quercetin", "id": "GO:1905235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905235", "evidence": [ { "database": "UniProtKB", "id": "P08699", "url": "https://www.uniprot.org/uniprotkb/P08699" } ], "pmid": "" }, { "name": "regulation of T cell proliferation", "id": "GO:0042129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042129", "evidence": [ { "database": "UniProtKB", "id": "P08699", "url": "https://www.uniprot.org/uniprotkb/P08699" } ], "pmid": "" }, { "name": "negative regulation of NK T cell activation", "id": "GO:0051134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051134", "evidence": [ { "database": "UniProtKB", "id": "P08699", "url": "https://www.uniprot.org/uniprotkb/P08699" } ], "pmid": "" }, { "name": 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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:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "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: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:5016", "name": "hepatocellular clear cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5016", "evidence": [ { "id": "5016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5016" } ], "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: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: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: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), 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": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "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": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "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": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "fatty acid catabolic process", "id": "GO:0009062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009062", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of monoatomic ion transport", "id": "GO:0043270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043270", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "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": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "glycerol biosynthetic process", "id": "GO:0006114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006114", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "intestinal absorption", "id": "GO:0050892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050892", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of endothelial cell proliferation", "id": "GO:0001936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001936", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "adult feeding behavior", "id": "GO:0008343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008343", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of developmental growth", "id": "GO:0048639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048639", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "activation of protein kinase C activity", "id": "GO:1990051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990051", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "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": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of intestinal cholesterol absorption", "id": "GO:0030300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030300", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "leukocyte tethering or rolling", "id": "GO:0050901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050901", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "bone mineralization involved in bone maturation", "id": "GO:0035630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035630", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "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": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "response to dietary excess", "id": "GO:0002021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002021", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "regulation of nitric-oxide synthase activity", "id": "GO:0050999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050999", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of protein modification process", "id": "GO:0031401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031401", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "negative regulation of glucagon secretion", "id": "GO:0070093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070093", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "positive regulation of peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035360", "evidence": [ { "database": "UniProtKB", "id": "P50596", "url": "https://www.uniprot.org/uniprotkb/P50596" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { 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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: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: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: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 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { 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"database": "UniProtKB", "id": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "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": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "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": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": 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"positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "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": "Q8VIP2", "url": "https://www.uniprot.org/uniprotkb/Q8VIP2" } ], "pmid": "" }, { "name": 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"record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "Q62915-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q62915", "url": "https://www.uniprot.org/uniprotkb/Q62915" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 909, "chemical_mass": 103259.0, "gene_names": "Cask", "protein_name": "Peripheral plasma membrane protein CASK", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. 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:0060309", "name": "syndromic X-linked intellectual disability", "description": "A syndromic intellectual disability characterized by an X-linked inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:0060309", "evidence": [ { "id": "0060309", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060309" } ], "weight": 0.0 }, { "disease_id": "DOID:0060807", "name": "syndromic X-linked intellectual disability Najm type", "description": "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0060807", "evidence": [ { "id": "0060807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060807" } ], "weight": 0.0 }, { "disease_id": "DOID:14711", "name": "FG syndrome", "description": "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern.", "url": "https://disease-ontology.org/term/DOID:14711", "evidence": [ { "id": "14711", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14711" } ], "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": "Q62915", "url": 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"database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": 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"database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "AMPA glutamate receptor complex", "id": "GO:0032281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032281", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P19491", "url": "https://www.uniprot.org/uniprotkb/P19491" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "P19491", 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"name": "eumycotic mycetoma", "description": "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules.", "url": "https://disease-ontology.org/term/DOID:13078", "evidence": [ { "id": "13078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13078" } ], "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: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:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A 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: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:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "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: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:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "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:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "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:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "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: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: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:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "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": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "habituation", "id": "GO:0046959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046959", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "mastication", "id": "GO:0071626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071626", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "cerebellar cortex morphogenesis", "id": "GO:0021696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021696", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "norepinephrine secretion", "id": "GO:0048243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048243", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to food", "id": "GO:0032094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032094", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to temperature stimulus", "id": "GO:0009266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009266", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to stress", "id": "GO:0006950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006950", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "dopamine catabolic process", "id": "GO:0042420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042420", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "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": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "norepinephrine metabolic process", "id": "GO:0042415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042415", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "fear response", "id": "GO:0042596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042596", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "catecholamine metabolic process", "id": "GO:0006584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006584", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to xenobiotic 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"https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "renin secretion into blood stream", "id": "GO:0002001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002001", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "cellular response to phosphate starvation", "id": "GO:0016036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016036", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "negative regulation of dopamine metabolic process", "id": "GO:0045963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045963", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "renal filtration", "id": "GO:0097205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097205", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "renal sodium excretion", "id": "GO:0035812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035812", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "catecholamine catabolic process", "id": "GO:0042424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042424", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "positive regulation of lactation", "id": "GO:1903489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903489", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "catechol-containing compound metabolic process", "id": "GO:0009712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009712", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "dopamine secretion", "id": "GO:0014046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014046", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "renal albumin absorption", "id": "GO:0097018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097018", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to dopamine", "id": "GO:1903350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903350", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to olanzapine", "id": "GO:0097333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097333", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "response to risperidone", "id": "GO:0097336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097336", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "nervous system process", "id": "GO:0050877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050877", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P22734", "url": "https://www.uniprot.org/uniprotkb/P22734" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": 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"https://disease-ontology.org/term/DOID:0050731", "evidence": [ { "id": "0050731", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050731" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "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 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"id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "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:2394", "name": "ovarian cancer", "description": "A 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: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 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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: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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "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:14069", "name": "cerebral malaria", "description": "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species.", "url": "https://disease-ontology.org/term/DOID:14069", "evidence": [ { "id": "14069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14069" } ], "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: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: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:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "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:2394", "name": "ovarian cancer", "description": "A 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:2468", "name": "psychotic disorder", "description": "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality.", "url": 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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: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:571", "name": "median neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:571", "evidence": [ { "id": "571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:571" } ], "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: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:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring 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"id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "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": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine autophosphorylation", "id": "GO:1900086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900086", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": 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active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P43322", "url": "https://www.uniprot.org/uniprotkb/P43322" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": 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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: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: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: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:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2058", "name": "chronic mucocutaneous candidiasis", "description": "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp.", "url": "https://disease-ontology.org/term/DOID:2058", "evidence": [ { "id": "2058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2058" } ], "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: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:4074", "name": "pancreatic adenocarcinoma", "description": "A pancreatic carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4074", "evidence": [ { "id": "4074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4074" } ], "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: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: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: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 } ], "biological_process": [ { "name": "JUN phosphorylation", "id": "GO:0007258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007258", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "protein localization to tricellular tight junction", "id": "GO:0061833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061833", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "ERBB signaling pathway", "id": "GO:0038127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038127", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "integrin-mediated signaling pathway", "id": "GO:0007229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "neuromuscular junction development", "id": "GO:0007528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007528", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of protein metabolic process", "id": "GO:0051247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051247", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "SMAD protein signal transduction", "id": "GO:0060395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060395", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "peptidyl-threonine phosphorylation", "id": "GO:0018107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018107", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of determination of dorsal identity", "id": "GO:2000017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000017", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "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": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "P49185", "url": "https://www.uniprot.org/uniprotkb/P49185" 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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: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: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: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:2394", "name": "ovarian cancer", "description": "A 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:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.", "url": "https://disease-ontology.org/term/DOID:264", "evidence": [ { "id": "264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:264" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "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: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: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:3774", "name": "chordoid glioma", "description": "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.", "url": "https://disease-ontology.org/term/DOID:3774", "evidence": [ { "id": "3774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3774" } ], "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:4552", "name": "large cell carcinoma", "description": "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm.", "url": "https://disease-ontology.org/term/DOID:4552", "evidence": [ { "id": "4552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4552" } ], "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:75", "name": "lymphatic system disease", "description": "An immune system disease that is located_in the lymphatic system.", "url": "https://disease-ontology.org/term/DOID:75", "evidence": [ { "id": "75", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:75" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "protein 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migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "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": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "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": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "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": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "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": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "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": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "protein kinase C signaling", "id": "GO:0070528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070528", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900016", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "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": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P05696", "url": "https://www.uniprot.org/uniprotkb/P05696" 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"Asn713", "evidence": [ { "id": "Q63226", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q63226#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Asn716", "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": 716, "start_aa": "Asn", "end_pos": 716, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn716", "evidence": [ { "id": "Q63226", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q63226#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "990", "end_pos": "990", "site_lbl": "Thr990", "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": 990, "start_aa": "Thr", "end_pos": 990, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr990", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "1006", "end_pos": "1006", "site_lbl": "Ser1006", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q63226", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63226" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "883", "end_pos": "883", "site_lbl": "Ser883", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q63226", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63226" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "886", "end_pos": "886", "site_lbl": "Thr886", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Ser890", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q63226", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63226" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "945", "end_pos": "945", "site_lbl": "Ser945", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "14572453", "url": "https://glygen.org/publication/PubMed/14572453" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "952", "end_pos": "952", "site_lbl": "Phe952", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of interaction with AP4M1.", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "14572453", "url": "https://glygen.org/publication/PubMed/14572453" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "954", "end_pos": "954", "site_lbl": "Phe954", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Loss of interaction with AP4M1.", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "14572453", "url": "https://glygen.org/publication/PubMed/14572453" } ] } ] }, { "uniprot_canonical_ac": "Q63226-1", "start_pos": "957", "end_pos": "957", "site_lbl": "Val957", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Loss of interaction with AP4M1.", "evidence": [ { "database": "UniProtKB", "id": "Q63226", "url": "https://www.uniprot.org/uniprotkb/Q63226" }, { "database": "PubMed", "id": "14572453", "url": "https://glygen.org/publication/PubMed/14572453" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "G3V7R4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 649, "chemical_mass": 69344.0, "gene_names": "Foxo1;Fkhr;Foxo1a;Foxo1", "protein_name": "Forkhead box protein O1", "disease": [ { "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: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: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: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:4051", "name": "alveolar rhabdomyosarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:4051", "evidence": [ { "id": "4051", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4051" } ], "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 } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": 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"pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "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": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": 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"biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "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": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "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": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "G3V7R4", "url": "https://www.uniprot.org/uniprotkb/G3V7R4" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q62685", "url": "https://www.uniprot.org/uniprotkb/Q62685" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "Q62685", "url": "https://www.uniprot.org/uniprotkb/Q62685" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62685", "url": "https://www.uniprot.org/uniprotkb/Q62685" } ], "pmid": "" }, { "name": "regulation of fatty acid metabolic process", "id": "GO:0019217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019217", "evidence": [ { "database": "UniProtKB", "id": "Q62685", "url": "https://www.uniprot.org/uniprotkb/Q62685" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "cardiac muscle cell apoptotic process", "id": "GO:0010659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010659", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of protein targeting to mitochondrion", "id": "GO:1903215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903215", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "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": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "mRNA splice site recognition", "id": "GO:0006376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006376", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway", "id": "GO:1903298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903298", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of striated muscle cell apoptotic process", "id": "GO:0010664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010664", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane permeability involved in apoptotic process", "id": "GO:1902109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902109", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of muscle atrophy", "id": "GO:0014736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014736", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "response to injury involved in regulation of muscle adaptation", "id": "GO:0014876", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014876", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of death-inducing signaling complex assembly", "id": "GO:1903073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903073", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "negative regulation of programmed necrotic cell death", "id": "GO:0062099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062099", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity involved in apoptotic process", "id": "GO:0043027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043027", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "death effector domain binding", "id": "GO:0035877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035877", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "phosphatase binding", "id": "GO:0019902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "caspase binding", "id": "GO:0089720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089720", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "death receptor binding", "id": "GO:0005123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005123", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" }, { "name": "sarcoplasm", "id": "GO:0016528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016528", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q62881-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Thr149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" }, { "database": "iPTMnet", "id": "Q62881", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q62881" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "PubMed", "id": "12191471", "url": "https://glygen.org/publication/PubMed/12191471" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Not phosphorylated by CK2. Loses the ability to block CASP8-, FAS-, or TNFRSF1A-induced apoptosis. Prevents translocation to mitochondria. Significantly decreases resistance to hydrogen peroxide-induced cell death. Doesn't interact with PPM1G, BAX and CASP2. Doesn't inhibit CASP2 and CASP3 activation. Doesn't was inhibit CASP8-induced apoptosis.", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" }, { "database": "PubMed", "id": "19001025", "url": "https://glygen.org/publication/PubMed/19001025" }, { "database": "PubMed", "id": "16639714", "url": "https://glygen.org/publication/PubMed/16639714" }, { "database": "PubMed", "id": "12191471", "url": "https://glygen.org/publication/PubMed/12191471" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "Significantly enhances resistance against hydrogen peroxide- and induced by isoproterenol or aldosterone-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" }, { "database": "PubMed", "id": "19001025", "url": "https://glygen.org/publication/PubMed/19001025" }, { "database": "PubMed", "id": "16639714", "url": "https://glygen.org/publication/PubMed/16639714" } ] } ] }, { "uniprot_canonical_ac": "Q62881-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Leu31", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Failed to protect against extrinsic and intrinsic apoptotic pathways; when associated with R-69. Not interferes with death-inducing signaling complex (DISC) assembly; when associated with R-69. Promotes BAX activation; when associated with R-69.", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" }, { "database": "PubMed", "id": "15383280", "url": "https://glygen.org/publication/PubMed/15383280" } ] } ] }, { "uniprot_canonical_ac": "Q62881-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Gly69", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Failed to protect against extrinsic and intrinsic apoptotic pathways; when associated with F-31. Not interferes with DISC assembly; when associated with F-31. Promotes BAX activation; when associated with F-31.", "evidence": [ { "database": "UniProtKB", "id": "Q62881", "url": "https://www.uniprot.org/uniprotkb/Q62881" }, { "database": "PubMed", "id": "15383280", "url": "https://glygen.org/publication/PubMed/15383280" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "Q66HG4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 342, "chemical_mass": 37893.0, "gene_names": "Galm;Galm", "protein_name": "Galactose mutarotase", "disease": [ { "disease_id": "DOID:0060969", "name": "galactosemia 4", "description": "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22.", "url": "https://disease-ontology.org/term/DOID:0060969", "evidence": [ { "id": "0060969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060969" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" }, { "name": "galactose catabolic process via UDP-galactose, Leloir pathway", "id": "GO:0033499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033499", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" }, { "name": "galactose metabolic process", "id": "GO:0006012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006012", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" }, { "name": "hexose metabolic process", "id": "GO:0019318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019318", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" } ], "molecular_function": [ { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" }, { "name": "aldose 1-epimerase activity", "id": "GO:0004034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004034", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q66HG4-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q66HG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66HG4" } ] } ] }, { "uniprot_canonical_ac": "Q66HG4-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66HG4", "url": "https://www.uniprot.org/uniprotkb/Q66HG4" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q66HG4", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q66HG4" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "Q68G30-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 505, "chemical_mass": 55655.0, "gene_names": "Klc3;Klc3;Klct", "protein_name": "Kinesin light chain 3", "disease": [ { "disease_id": "DOID:0080348", "name": "Alzheimer's disease 1", "description": "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.", "url": "https://disease-ontology.org/term/DOID:0080348", "evidence": [ { "id": "0080348", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080348" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" }, { "name": "ciliary rootlet", "id": "GO:0035253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035253", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q68G30", "url": "https://www.uniprot.org/uniprotkb/Q68G30" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": 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{ "name": "male sex differentiation", "id": "GO:0046661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046661", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of penile erection", "id": "GO:0060406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060406", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "regulation of prostatic bud formation", "id": "GO:0060685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060685", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "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": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" 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}, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "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": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": 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"https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "cellular response to testosterone stimulus", "id": "GO:0071394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071394", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "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": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "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": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": 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"P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "seminiferous tubule development", "id": "GO:0072520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072520", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "epithelial cell morphogenesis", "id": "GO:0003382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "male somatic sex determination", "id": "GO:0019102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019102", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "androgen receptor signaling pathway", "id": "GO:0030521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030521", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033148", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043568", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of integrin biosynthetic process", "id": "GO:0045726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045726", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "regulation of developmental growth", "id": "GO:0048638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048638", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "animal organ formation", "id": "GO:0048645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048645", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "male genitalia morphogenesis", "id": "GO:0048808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048808", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "morphogenesis of an epithelial fold", "id": "GO:0060571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060571", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "lateral sprouting involved in mammary gland duct morphogenesis", "id": "GO:0060599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060599", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "prostate gland growth", "id": "GO:0060736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060736", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "epithelial cell differentiation involved in prostate gland development", "id": "GO:0060742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060742", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "tertiary branching involved in mammary gland duct morphogenesis", "id": "GO:0060748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060748", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "mammary gland alveolus development", "id": "GO:0060749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060749", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060769", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "cellular response to steroid hormone stimulus", "id": "GO:0071383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071383", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure", "id": "GO:0003073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003073", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "response to environmental enrichment", "id": "GO:0090648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090648", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "P15207", "url": "https://www.uniprot.org/uniprotkb/P15207" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": 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"https://disease-ontology.org/term/DOID:0110271", "evidence": [ { "id": "0110271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110271" } ], "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:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, 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"evidence": [ { "database": "UniProtKB", "id": "P51869", "url": "https://www.uniprot.org/uniprotkb/P51869" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P51869", "url": "https://www.uniprot.org/uniprotkb/P51869" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "P63079-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P63079", "url": "https://www.uniprot.org/uniprotkb/P63079" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 473, "chemical_mass": 54166.0, "gene_names": "Gabrb3;Gabrb-3;Gabrb3", "protein_name": "Gamma-aminobutyric acid receptor subunit beta-3", "disease": [ { "disease_id": "DOID:0050561", "name": 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"Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "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": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q63009", 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"https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "peptidyl-arginine methylation", "id": "GO:0018216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018216", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "regulation of megakaryocyte differentiation", "id": "GO:0045652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045652", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "negative regulation of megakaryocyte differentiation", "id": "GO:0045653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045653", "evidence": [ { "database": "UniProtKB", "id": "Q63009", "url": "https://www.uniprot.org/uniprotkb/Q63009" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", 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"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": 356, "start_aa": "Asn", "end_pos": 356, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn356", "evidence": [ { "id": "Q6Q0N0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6Q0N0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6Q0N0-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Thr586", "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": 586, "start_aa": "Thr", 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(chondroitin sulfate) serine", "icn3d_view": {}, "start_pos": 271, "start_aa": "Ser", "end_pos": 271, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser271", "evidence": [ { "id": "Q05546", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05546#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q05546-1", "start_pos": "278", "end_pos": "278", "site_lbl": "Asn278", "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": 278, "start_aa": "Asn", "end_pos": 278, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn278", "evidence": [ { "id": "Q05546", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q05546#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q05546-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Ser302", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Xyl...) 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filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "regulation of dendritic spine development", "id": "GO:0060998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060998", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "negative regulation of receptor internalization", "id": "GO:0002091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002091", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception", "id": "GO:0050974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050974", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "negative regulation of voltage-gated calcium channel activity", "id": "GO:1901386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901386", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic plasticity", "id": "GO:0048170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048170", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "cellular response to L-glutamate", "id": "GO:1905232", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905232", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "cellular response to potassium ion", "id": "GO:0035865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035865", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "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": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "regulation of translation at presynapse, modulating synaptic transmission", "id": "GO:0099577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099577", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "response to interleukin-17", "id": "GO:0097396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097396", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "inhibitory chemical synaptic transmission", "id": "GO:0098977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098977", "evidence": [ { "database": 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"" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q80WE1", "url": "https://www.uniprot.org/uniprotkb/Q80WE1" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", 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"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: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:14179", "name": "X-linked agammaglobulinemia", "description": "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.", "url": "https://disease-ontology.org/term/DOID:14179", "evidence": [ { 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"GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "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": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "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": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "negative regulation of heart rate", "id": "GO:0010459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010459", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "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": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "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": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to iron(II) ion", "id": "GO:0010040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010040", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "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": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q63787", "url": "https://www.uniprot.org/uniprotkb/Q63787" } ], "pmid": "" }, { "name": "regulation of protein 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"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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "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: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: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:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone 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:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "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: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: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "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: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:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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: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:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "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: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: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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "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: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:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "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:3500", "name": "gallbladder adenocarcinoma", "description": "A gallbladder carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3500", "evidence": [ { "id": "3500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3500" } ], "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: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: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: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: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:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "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: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: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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: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: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:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "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: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: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:790", "name": "ocular hypotension", "description": "", "url": "https://disease-ontology.org/term/DOID:790", "evidence": [ { "id": "790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:790" } ], "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:8432", "name": "polycythemia", "description": "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow.", "url": "https://disease-ontology.org/term/DOID:8432", "evidence": [ { "id": "8432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8432" } ], "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: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: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:8970", "name": "subacute sclerosing panencephalitis", "description": "A viral encephalitis that has_material_basis_in persistent central nervous system infection of the wild-type measles virus (Morbillivirus hominis) characterized by onset of personality or behavioral changes and intellectual deterioriation years after initial infection, followed by progressive decline in motor function, akinetic mutism or coma, and death. Higher incidence or shorter latency periods may be observed in those initially infected under the age of 2 or in cases of intrafamilial transmission.", "url": "https://disease-ontology.org/term/DOID:8970", "evidence": [ { "id": "8970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8970" } ], "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: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:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "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": "suckling behavior", "id": "GO:0001967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001967", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "glutamate biosynthetic process", "id": "GO:0006537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006537", 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"evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" }, { "name": "glutaminase activity", "id": "GO:0004359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004359", "evidence": [ { "database": "UniProtKB", "id": "P13264", "url": "https://www.uniprot.org/uniprotkb/P13264" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P13264-1", "start_pos": "88", "end_pos": "88", "site_lbl": "Thr88", "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": 88, "start_aa": "Thr", "end_pos": 88, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr88", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": 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"name": "choline metabolic process", "id": "GO:0019695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019695", "evidence": [ { "database": "UniProtKB", "id": "Q63342", "url": "https://www.uniprot.org/uniprotkb/Q63342" } ], "pmid": "" }, { "name": "choline catabolic process", "id": "GO:0042426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042426", "evidence": [ { "database": "UniProtKB", "id": "Q63342", "url": "https://www.uniprot.org/uniprotkb/Q63342" } ], "pmid": "" }, { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q63342", "url": "https://www.uniprot.org/uniprotkb/Q63342" } ], "pmid": "" }, { "name": "amino-acid betaine catabolic process", "id": "GO:0006579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006579", "evidence": [ { "database": "UniProtKB", "id": "Q63342", "url": "https://www.uniprot.org/uniprotkb/Q63342" } ], "pmid": "" } ], 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"url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to 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regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "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": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "sensory 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"GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "P21708", "url": "https://www.uniprot.org/uniprotkb/P21708" } ], "pmid": "" }, { "name": "regulation of cytoskeleton 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], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "P60517-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P60517", "url": "https://www.uniprot.org/uniprotkb/P60517" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 117, "chemical_mass": 13918.0, "gene_names": "Gabarap;Gabarap", "protein_name": "Gamma-aminobutyric acid receptor-associated protein", "disease": [ { "disease_id": "DOID:0050888", "name": "syndromic intellectual disability", "description": "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050888", "evidence": [ { "id": "0050888", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050888" } ], "weight": 0.0 } ], "biological_process": [ { "name": "autophagosome maturation", "id": "GO:0097352", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032507", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "modulation of inhibitory postsynaptic potential", "id": "GO:0098828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098828", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "negative regulation of muscle filament sliding", "id": "GO:1904113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904113", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "actin filament organization", "id": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "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": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "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": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "postsynaptic actin cytoskeleton organization", "id": "GO:0098974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098974", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "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": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "regulation of filopodium assembly", "id": "GO:0051489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051489", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine morphogenesis", "id": "GO:0061003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061003", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "negative regulation of locomotion involved in locomotory behavior", "id": "GO:0090327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090327", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "regulation of actin filament polymerization", "id": "GO:0030833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030833", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "cell communication by chemical coupling", "id": "GO:0010643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010643", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "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": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "positive regulation of receptor localization to synapse", "id": "GO:1902685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902685", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "cellular response to X-ray", "id": "GO:0071481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071481", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "regulation of postsynaptic density protein 95 clustering", "id": "GO:1902897", "url": 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"https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "cortical actin cytoskeleton", "id": "GO:0030864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030864", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "gap junction", "id": "GO:0005921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "neuron spine", "id": "GO:0044309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044309", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "axonal spine", "id": "GO:0044308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044308", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "site of polarized growth", "id": "GO:0030427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030427", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "dendritic filopodium", "id": "GO:1902737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902737", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "postsynaptic cytosol", "id": "GO:0099524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099524", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": "https://www.uniprot.org/uniprotkb/Q07266" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q07266", "url": 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"id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane potential", "id": "GO:0010917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010917", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "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": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "regulation of calcium-mediated signaling", "id": "GO:0050848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050848", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic depression", "id": "GO:1900454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "positive regulation of protein localization to synapse", "id": "GO:1902474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902474", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "nuclear periphery", "id": "GO:0034399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034399", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "somatodendritic compartment", "id": "GO:0036477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036477", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "axonal growth cone", "id": "GO:0044295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044295", "evidence": [ { "database": "UniProtKB", "id": "P19332", "url": "https://www.uniprot.org/uniprotkb/P19332" } ], "pmid": "" }, { "name": "neurofibrillary tangle", "id": "GO:0097418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097418", "evidence": [ { "database": "UniProtKB", "id": 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], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": 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growth factor stimulus", "id": "GO:0071363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071363", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "neural crest cell differentiation", "id": "GO:0014033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014033", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": 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"id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "transdifferentiation", "id": "GO:0060290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060290", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "cellular response to parathyroid hormone stimulus", "id": "GO:0071374", "url": 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"" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "positive regulation of myoblast differentiation", "id": "GO:0045663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045663", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": 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"url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "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": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle cell differentiation", "id": "GO:2001016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001016", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "renal tubule morphogenesis", "id": "GO:0061333", 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"https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "primary heart field specification", "id": "GO:0003138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003138", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "sinoatrial valve morphogenesis", "id": "GO:0003185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003185", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "cardiac ventricle formation", "id": "GO:0003211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003211", "evidence": [ { "database": "UniProtKB", "id": "A0A096MJY4", "url": "https://www.uniprot.org/uniprotkb/A0A096MJY4" } ], "pmid": "" }, { "name": "muscle cell fate determination", "id": "GO:0007521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007521", "evidence": [ { "database": "UniProtKB", "id": 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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: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: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:2044", "name": "drug-induced hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2044", "evidence": [ { "id": "2044", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2044" } ], "weight": 0.0 }, { "disease_id": "DOID:2741", "name": "bilirubin metabolic disorder", "description": "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism.", "url": "https://disease-ontology.org/term/DOID:2741", "evidence": [ { "id": "2741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2741" } ], "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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "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: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: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: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": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "intracellular chloride ion homeostasis", "id": "GO:0030644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030644", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "glutathione transport", "id": "GO:0034635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034635", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "bile acid and bile salt transport", "id": "GO:0015721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015721", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "canalicular bile acid transport", "id": "GO:0015722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015722", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007565", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to steroid hormone", "id": "GO:0048545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048545", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "xenobiotic transmembrane transport", "id": "GO:0006855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006855", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to growth hormone", "id": "GO:0060416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060416", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "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": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "heme catabolic process", "id": "GO:0042167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042167", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to mercury ion", "id": "GO:0046689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046689", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to glucagon", "id": "GO:0033762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033762", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "cellular response to interleukin-6", "id": "GO:0071354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071354", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "xenobiotic export from cell", "id": "GO:0046618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046618", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to antineoplastic agent", "id": "GO:0097327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097327", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "xenobiotic transport across blood-brain barrier", "id": "GO:1990962", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990962", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "thyroid hormone transport", "id": "GO:0070327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070327", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "detoxification of mercury ion", "id": "GO:0050787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050787", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "antibiotic metabolic process", "id": "GO:0016999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016999", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to cisplatin", "id": "GO:0072718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072718", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "mercury ion transport", "id": "GO:0015694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015694", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "prostaglandin transport", "id": "GO:0015732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015732", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "benzylpenicillin metabolic process", "id": "GO:1901086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901086", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "leukotriene transport", "id": "GO:0071716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071716", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "xenobiotic detoxification by transmembrane export across the plasma membrane", "id": "GO:1990961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990961", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "pigment metabolic process", "id": "GO:0042440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042440", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "bilirubin transport", "id": "GO:0015723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015723", "evidence": [ { "database": "UniProtKB", "id": "Q63120", "url": "https://www.uniprot.org/uniprotkb/Q63120" } ], "pmid": "" }, { "name": "response to wortmannin", "id": 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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: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: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: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: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: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: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: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: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: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 } ], "biological_process": [ { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "P04276", "url": "https://www.uniprot.org/uniprotkb/P04276" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P04276", "url": "https://www.uniprot.org/uniprotkb/P04276" } ], "pmid": "" }, { "name": "female pregnancy", "id": "GO:0007565", "url": 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} ], "weight": 0.0 }, { "disease_id": "DOID:14557", "name": "primary pulmonary hypertension", "description": "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling.", "url": "https://disease-ontology.org/term/DOID:14557", "evidence": [ { "id": "14557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14557" } ], "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:224", "name": "transient cerebral ischemia", "description": "A brain 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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: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: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 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secretion", "id": "GO:2000866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000866", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "negative regulation of Ras protein signal transduction", "id": "GO:0046580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046580", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "positive regulation of ovarian follicle development", "id": "GO:2000386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000386", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "response to flavonoid", "id": "GO:1905395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905395", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "response to hypobaric hypoxia", "id": "GO:1990910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990910", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "response to L-arginine", "id": "GO:1903576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903576", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide biosynthetic process", "id": "GO:0010729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010729", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "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": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "cellular response to testosterone stimulus", "id": "GO:0071394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071394", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q8R500", "url": "https://www.uniprot.org/uniprotkb/Q8R500" } ], "pmid": "" }, { "name": "male gonad 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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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": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "plasma membrane raft", "id": "GO:0044853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044853", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "nucleotide-activated protein kinase complex", "id": "GO:0031588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031588", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "cAMP-dependent protein kinase complex", "id": "GO:0005952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005952", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "germinal vesicle", "id": "GO:0042585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042585", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" } ], "molecular_function": [ { "name": "beta-2 adrenergic receptor binding", "id": "GO:0031698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031698", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "protein kinase A catalytic subunit binding", "id": "GO:0034236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034236", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "P12368", "url": "https://www.uniprot.org/uniprotkb/P12368" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", 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The nuclei are located in the center of the cell, instead of their normal location at the periphery.", "url": "https://disease-ontology.org/term/DOID:14717", "evidence": [ { "id": "14717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ], "weight": 0.0 }, { "disease_id": "DOID:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "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 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 } ], "biological_process": [ { "name": "membrane tubulation", "id": "GO:0097749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097749", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "actin filament bundle organization", "id": "GO:0061572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061572", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cellular response to nitric oxide", "id": "GO:0071732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071732", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "regulation of Rac protein signal transduction", "id": "GO:0035020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035020", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "macropinocytosis", "id": "GO:0044351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044351", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "transferrin transport", "id": "GO:0033572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033572", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cellular response to X-ray", "id": "GO:0071481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071481", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "synaptic vesicle budding from presynaptic endocytic zone membrane", "id": "GO:0016185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016185", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of clathrin-dependent endocytosis", "id": "GO:2000370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000370", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cellular response to carbon monoxide", "id": "GO:0071245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071245", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "negative regulation of non-motile cilium assembly", "id": "GO:1902856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902856", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of P-type sodium:potassium-exchanging transporter activity", "id": "GO:1903408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903408", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "negative regulation of membrane tubulation", "id": "GO:1903526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903526", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "vesicle scission", "id": "GO:0099050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099050", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "postsynaptic endocytosis", "id": "GO:0140239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140239", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": "https://www.uniprot.org/uniprotkb/P39052" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P39052", "url": 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"random inactivation of X chromosome", "id": "GO:0060816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060816", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "dendritic transport of messenger ribonucleoprotein complex", "id": "GO:0098963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098963", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "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": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "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": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "negative regulation of telomere maintenance via telomerase", "id": "GO:0032211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032211", "evidence": [ { "database": 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{ "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "maintenance of protein location in nucleus", "id": "GO:0051457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051457", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "positive regulation of attachment of mitotic spindle microtubules to kinetochore", "id": "GO:1902425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902425", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "dosage compensation by inactivation of X chromosome", "id": "GO:0009048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009048", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": "https://www.uniprot.org/uniprotkb/Q6IMY8" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q6IMY8", "url": 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"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": 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immune response to tumor cell", "id": "GO:0002840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002840", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "negative regulation of RNA polymerase II transcription preinitiation complex assembly", "id": "GO:0017055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017055", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of mismatch repair", "id": "GO:0032425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032425", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "negative regulation of CD4-positive, alpha-beta T cell differentiation", "id": "GO:0043371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043371", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "T-helper 1 cell differentiation", "id": "GO:0045063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045063", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of glycogen catabolic process", "id": "GO:0045819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045819", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell differentiation", "id": "GO:2001200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001200", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "T-helper 1 cell activation", "id": "GO:0035711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035711", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "inflammatory response to antigenic stimulus", "id": "GO:0002437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002437", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "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": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of myeloid cell apoptotic process", "id": "GO:0033034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033034", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "endothelial cell proliferation", "id": "GO:0001935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001935", "evidence": 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defense response to bacterium", "id": "GO:0050831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050831", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P63159", "url": "https://www.uniprot.org/uniprotkb/P63159" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": 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"https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "mannokinase activity", "id": "GO:0019158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019158", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": 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"glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P17712", "url": "https://www.uniprot.org/uniprotkb/P17712" } ], "pmid": "" }, { "name": "positive regulation of glycogen 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"biomarkers": [], "sites": [], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "P27605-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P27605", "url": "https://www.uniprot.org/uniprotkb/P27605" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 218, "chemical_mass": 24477.0, "gene_names": "Hprt1;Hgprtase;Hprt1;Hprt", "protein_name": "Hypoxanthine-guanine phosphoribosyltransferase", "disease": [ { "disease_id": "DOID:0112127", "name": "HRPT-related hyperuricemia", "description": "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.", "url": "https://disease-ontology.org/term/DOID:0112127", "evidence": [ { "id": "0112127", "database": "AGR", "url": 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"name": "regulation of epithelial cell proliferation", "id": "GO:0050678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050678", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of glial cell differentiation", "id": "GO:0045687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045687", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "Notch signaling involved in heart development", "id": "GO:0061314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061314", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cell migration involved in sprouting angiogenesis", "id": "GO:0090051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090051", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "mitral valve formation", "id": "GO:0003192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003192", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development", "id": "GO:0060528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060528", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac muscle cell myoblast differentiation", "id": "GO:0060379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060379", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cellular response to tumor cell", "id": "GO:0071228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071228", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of cardioblast proliferation", "id": "GO:0003264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003264", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "inflammatory response to antigenic stimulus", "id": "GO:0002437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002437", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of catalytic activity", "id": "GO:0043086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043086", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of calcium ion-dependent exocytosis", "id": "GO:0045955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045955", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "glomerular mesangial cell development", "id": "GO:0072144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072144", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion molecule production", "id": "GO:0060354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060354", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "chemical synaptic transmission, postsynaptic", "id": "GO:0099565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099565", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "distal tubule development", "id": "GO:0072017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072017", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "collecting duct development", "id": "GO:0072044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072044", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of extracellular matrix assembly", "id": "GO:1901201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901201", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "apoptotic process involved in embryonic digit morphogenesis", "id": "GO:1902263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902263", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "luteolysis", "id": "GO:0001554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001554", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac right ventricle formation", "id": "GO:0003219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003219", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cell migration involved in endocardial cushion formation", "id": "GO:0003273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003273", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of aorta morphogenesis", "id": "GO:1903849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903849", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of astrocyte differentiation", "id": "GO:0048711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048711", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of cell adhesion involved in heart morphogenesis", "id": "GO:0061344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061344", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation involved in heart valve morphogenesis", "id": "GO:0003252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003252", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "response to muramyl dipeptide", "id": "GO:0032495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032495", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "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": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "venous blood vessel morphogenesis", "id": "GO:0048845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048845", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte differentiation", "id": "GO:0048715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048715", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "auditory receptor cell fate commitment", "id": "GO:0009912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009912", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of transcription of Notch receptor target", "id": "GO:0007221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007221", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "coronary sinus valve morphogenesis", "id": "GO:0003182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003182", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix constituent secretion", "id": "GO:0003332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003332", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of cardiac epithelial to mesenchymal transition", "id": "GO:0062043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062043", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in morphogenesis", "id": "GO:1902339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902339", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of inner ear auditory receptor cell differentiation", "id": "GO:0045607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045607", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "arterial endothelial cell differentiation", "id": "GO:0060842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060842", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell development", "id": "GO:0060948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060948", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of pro-B cell differentiation", "id": "GO:2000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000974", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "atrioventricular node development", "id": "GO:0003162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003162", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "growth involved in heart morphogenesis", "id": "GO:0003241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003241", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell differentiation", "id": "GO:0051152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051152", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "endocardium morphogenesis", "id": "GO:0003160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003160", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "coronary vein morphogenesis", "id": "GO:0003169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003169", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac chamber formation", "id": "GO:0003207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003207", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cardiac right atrium morphogenesis", "id": "GO:0003213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003213", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cell differentiation in spinal cord", "id": "GO:0021515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021515", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060768", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "venous endothelial cell differentiation", "id": "GO:0060843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060843", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "endocardial cell differentiation", "id": "GO:0060956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060956", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000048", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis", "id": "GO:2001027", "url": 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differentiation", "id": "GO:0030858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030858", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "reproductive structure development", "id": 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"https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "MAML1-RBP-Jkappa- ICN1 complex", "id": "GO:0002193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002193", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "CSL-Notch-Mastermind transcription factor complex", "id": "GO:1990433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990433", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" } ], 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"" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q07008", "url": "https://www.uniprot.org/uniprotkb/Q07008" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", 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"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": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "negative regulation of type 2 immune response", "id": "GO:0002829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002829", "evidence": [ { "database": "UniProtKB", "id": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "metal ion transport", "id": "GO:0030001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030001", "evidence": [ { "database": "UniProtKB", "id": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "negative regulation of interleukin-4 production", "id": "GO:0032713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032713", "evidence": [ { "database": "UniProtKB", "id": "Q5U2S1", "url": "https://www.uniprot.org/uniprotkb/Q5U2S1" } ], "pmid": "" }, { "name": "negative regulation of isotype switching to IgE isotypes", "id": "GO:0048294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048294", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004528", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "phosphoric diester hydrolase activity", "id": "GO:0008081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008081", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "exonuclease activity", "id": "GO:0004527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004527", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "nucleoside triphosphate diphosphatase activity", "id": "GO:0047429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047429", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "diphosphate metabolic process", "id": "GO:0071344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071344", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "sensory perception of mechanical stimulus", "id": "GO:0050954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050954", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "hematopoietic stem cell migration to bone marrow", "id": "GO:0097241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097241", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "generation of precursor metabolites and energy", "id": "GO:0006091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006091", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "central nervous system myelination", "id": "GO:0022010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022010", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": 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"https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "tooth mineralization", "id": "GO:0034505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034505", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], 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"https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "phosphate ion homeostasis", "id": "GO:0055062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055062", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "nucleoside triphosphate catabolic process", "id": "GO:0009143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009143", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "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": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "fat pad development", "id": "GO:0060613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060613", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": 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"https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "bone trabecula formation", "id": "GO:0060346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060346", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "response to platelet-derived growth factor", "id": "GO:0036119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036119", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "cementum mineralization", "id": "GO:0071529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071529", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "response to vitamin B6", "id": "GO:0034516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034516", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": 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"https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": "https://www.uniprot.org/uniprotkb/Q924C3" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "Q924C3", "url": 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"id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "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: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": 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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: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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "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:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "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: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: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: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: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:1687", "name": "neovascular glaucoma", "description": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.", "url": "https://disease-ontology.org/term/DOID:1687", "evidence": [ { "id": "1687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1687" } ], "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:1891", "name": "optic nerve disease", "description": "A cranial nerve disease that is located_in the optic nerve.", "url": "https://disease-ontology.org/term/DOID:1891", "evidence": [ { "id": "1891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1891" } ], "weight": 0.0 }, { "disease_id": "DOID:1924", "name": "hypogonadism", "description": "A gonadal disease that is characterized by diminished functional activity of the gonads.", "url": "https://disease-ontology.org/term/DOID:1924", "evidence": [ { "id": "1924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1924" } ], "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: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:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "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: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:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "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: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: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: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:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "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: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:5845", "name": "anterolateral myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:5845", "evidence": [ { "id": "5845", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5845" } ], "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: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: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:8252", "name": "chronic rhinitis", "description": "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.", "url": "https://disease-ontology.org/term/DOID:8252", "evidence": [ { "id": "8252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8252" } ], "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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "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: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 }, { "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": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "P22388", "url": "https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "response to transforming growth factor beta", "id": "GO:0071559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071559", "evidence": [ { "database": "UniProtKB", "id": "P22388", "url": "https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "endothelin receptor signaling pathway", "id": "GO:0086100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086100", "evidence": [ { "database": "UniProtKB", "id": "P22388", "url": "https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P22388", "url": "https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P22388", "url": "https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "P22388", "url": "https://www.uniprot.org/uniprotkb/P22388" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell apoptotic process", "id": "GO:0034392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034392", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "retina layer formation", "id": "GO:0010842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010842", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": 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], "pmid": "" }, { "name": "intracellular zinc ion homeostasis", "id": "GO:0006882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006882", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "cellular response to bisphenol A", "id": "GO:1903926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903926", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "motor neuron apoptotic process", "id": "GO:0097049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097049", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], 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"name": "L-aspartate import across plasma membrane", "id": "GO:0140009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140009", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "superoxide metabolic process", "id": "GO:0006801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006801", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "cellular response to cocaine", "id": "GO:0071314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071314", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "conditioned place preference", "id": "GO:1990708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990708", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": 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"intracellular glutamate homeostasis", "id": "GO:0090461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090461", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "cysteine transport", "id": "GO:0042883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042883", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "motor behavior", "id": "GO:0061744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061744", "evidence": [ { "database": "UniProtKB", "id": "P51907", "url": "https://www.uniprot.org/uniprotkb/P51907" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical 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"database": "UniProtKB", "id": "Q66HH2", "url": "https://www.uniprot.org/uniprotkb/Q66HH2" } ], "pmid": "" }, { "name": "natural killer cell proliferation", "id": "GO:0001787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001787", "evidence": [ { "database": "UniProtKB", "id": "Q66HH2", "url": "https://www.uniprot.org/uniprotkb/Q66HH2" } ], "pmid": "" }, { "name": "regulation of kinase activity", "id": "GO:0043549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043549", "evidence": [ { "database": "UniProtKB", "id": "Q66HH2", "url": "https://www.uniprot.org/uniprotkb/Q66HH2" } ], "pmid": "" }, { "name": "actin-mediated cell contraction", "id": "GO:0070252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070252", "evidence": [ { "database": "UniProtKB", "id": "Q66HH2", "url": "https://www.uniprot.org/uniprotkb/Q66HH2" } ], "pmid": "" }, { "name": "regulation of vasculogenesis", "id": "GO:2001212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001212", "evidence": [ { "database": "UniProtKB", "id": "Q66HH2", "url": "https://www.uniprot.org/uniprotkb/Q66HH2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "Q8R560-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q8R560", "url": "https://www.uniprot.org/uniprotkb/Q8R560" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 319, "chemical_mass": 36064.0, "gene_names": "Ankrd1;Alrp;Ankrd1;Carp;Crap;MARP", "protein_name": "Ankyrin repeat domain-containing protein 1", "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": 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Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. 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: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:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "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:4166", "name": "syphilis", "description": "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.", "url": "https://disease-ontology.org/term/DOID:4166", "evidence": [ { "id": "4166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ], "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:639", "name": "acute disseminated encephalomyelitis", "description": "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.", "url": "https://disease-ontology.org/term/DOID:639", "evidence": [ { "id": "639", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:639" } ], "weight": 0.0 }, { "disease_id": "DOID:643", "name": "progressive multifocal leukoencephalopathy", "description": "A viral infectious disease that involves reactivation of JC polyomavirus (Betapolyomavirus secuhominis) in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.", "url": "https://disease-ontology.org/term/DOID:643", "evidence": [ { "id": "643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:643" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 } ], "biological_process": [ { "name": "retrograde axonal transport", "id": "GO:0008090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "intermediate filament bundle assembly", "id": "GO:0045110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045110", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "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": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "anterograde axonal transport", "id": "GO:0008089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008089", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "peripheral nervous system axon regeneration", "id": "GO:0014012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014012", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "locomotion", "id": "GO:0040011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040011", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "regulation of synapse maturation", "id": "GO:0090128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090128", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "regulation of axon diameter", "id": "GO:0031133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031133", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "neurofilament bundle assembly", "id": "GO:0033693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033693", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "intermediate filament polymerization or depolymerization", "id": "GO:0045105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045105", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "response to sodium arsenite", "id": "GO:1903935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903935", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "response to acrylamide", "id": "GO:1903937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903937", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "postsynaptic modulation of chemical synaptic transmission", "id": "GO:0099170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099170", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "intermediate filament polymerization", "id": "GO:0045107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045107", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P19527", "url": "https://www.uniprot.org/uniprotkb/P19527" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": 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}, { "name": "positive regulation of dense core granule exocytosis", "id": "GO:1905415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905415", "evidence": [ { "database": "UniProtKB", "id": "P50232", "url": "https://www.uniprot.org/uniprotkb/P50232" } ], "pmid": "" }, { "name": "negative regulation of catecholamine secretion", "id": "GO:0033604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033604", "evidence": [ { "database": "UniProtKB", "id": "P50232", "url": "https://www.uniprot.org/uniprotkb/P50232" } ], "pmid": "" }, { "name": "negative regulation of vesicle fusion", "id": "GO:0031339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031339", "evidence": [ { "database": "UniProtKB", "id": "P50232", "url": "https://www.uniprot.org/uniprotkb/P50232" } ], "pmid": "" }, { "name": "insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035773", "evidence": [ { "database": "UniProtKB", "id": "P50232", 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No effect on localization to synapse. 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phosphorylation by PKA.", "evidence": [ { "database": "UniProtKB", "id": "P97610", "url": "https://www.uniprot.org/uniprotkb/P97610" }, { "database": "PubMed", "id": "17190793", "url": "https://glygen.org/publication/PubMed/17190793" } ] } ] } ], "record_id": "batch.rat.2" }, { "uniprot_canonical_ac": "Q02563-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 742, "chemical_mass": 82661.0, "gene_names": "Sv2a;Sv2a;Sv2", "protein_name": "Synaptic vesicle glycoprotein 2A", "disease": [ { "disease_id": "DOID:0112202", "name": "developmental and epileptic encephalopathy", "description": "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.", "url": "https://disease-ontology.org/term/DOID:0112202", "evidence": [ { "id": "0112202", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112202" } ], "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "GABA-ergic synapse", "id": "GO:0098982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098982", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" } ], "biological_process": [ { "name": "modulation of inhibitory postsynaptic potential", "id": "GO:0098828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098828", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035418", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "regulation of gamma-aminobutyric acid secretion", "id": "GO:0014052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014052", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "synaptic vesicle priming", "id": "GO:0016082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016082", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "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": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "neurotransmitter transport", "id": "GO:0006836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006836", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": 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No change in uptake of BoNT/E; when associated with Q-548. No change in uptake of BoNT/D.", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" }, { "database": "PubMed", "id": "21483489", "url": "https://glygen.org/publication/PubMed/21483489" }, { "database": "PubMed", "id": "18815274", "url": "https://glygen.org/publication/PubMed/18815274" } ] } ] }, { "uniprot_canonical_ac": "Q02563-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Asn548", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 548, "start_aa": "Asn", "end_pos": 548, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn548", "evidence": [ { "id": "Q02563", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q02563#ptm_processing" }, { "id": "18815274", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18815274" } ] } ], "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "Q", "comment": "No change in uptake of BoNT/E or BoNT/A by mouse SV2A/SV2B knockout neurons; SV2A apparent molecular weight decreases. No change in uptake of BoNT/E; when associated with Q-498. No change in uptake of BoNT/D.", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" }, { "database": "PubMed", "id": "21483489", "url": "https://glygen.org/publication/PubMed/21483489" }, { "database": "PubMed", "id": "18815274", "url": "https://glygen.org/publication/PubMed/18815274" } ] } ] }, { "uniprot_canonical_ac": "Q02563-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Asn573", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G09775CH", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. 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No change in uptake of BoNT/D.", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" }, { "database": "PubMed", "id": "21483489", "url": "https://glygen.org/publication/PubMed/21483489" }, { "database": "PubMed", "id": "18815274", "url": "https://glygen.org/publication/PubMed/18815274" } ] } ] }, { "uniprot_canonical_ac": "Q02563-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Ser127", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q02563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02563" } ] } ] }, { "uniprot_canonical_ac": "Q02563-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Ser393", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "Q02563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q02563" } ] } ] }, { "uniprot_canonical_ac": "Q02563-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Tyr480", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": "https://www.uniprot.org/uniprotkb/Q02563" } ] } ] }, { "uniprot_canonical_ac": "Q02563-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Ser80", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q02563", "url": 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The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0050697", "name": "chorioamnionitis", "description": "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:0050697", "evidence": [ { "id": "0050697", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050697" } ], "weight": 0.0 }, { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 }, { "disease_id": "DOID:0060071", "name": "pre-malignant neoplasm", "description": "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.", "url": "https://disease-ontology.org/term/DOID:0060071", "evidence": [ { "id": "0060071", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060071" } ], "weight": 0.0 }, { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0060704", "name": "lymphoproliferative syndrome", "description": "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.", "url": "https://disease-ontology.org/term/DOID:0060704", "evidence": [ { "id": "0060704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060704" } ], "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:0080797", "name": "nasal type extranodal NK/T-cell lymphoma", "description": "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.", "url": "https://disease-ontology.org/term/DOID:0080797", "evidence": [ { "id": "0080797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080797" } ], "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:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. 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], "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: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: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:11383", "name": "cryptorchidism", "description": "", "url": "https://disease-ontology.org/term/DOID:11383", "evidence": [ { "id": "11383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11383" } ], "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:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "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:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "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: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:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "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: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:13133", "name": "HELLP syndrome", "description": "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.", "url": "https://disease-ontology.org/term/DOID:13133", "evidence": [ { "id": "13133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13133" } ], "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:13767", "name": "clonorchiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.", "url": "https://disease-ontology.org/term/DOID:13767", "evidence": [ { "id": "13767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13767" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "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:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "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: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: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:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. 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:2394", "name": "ovarian cancer", "description": "A 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:2475", "name": "chronic conjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2475", "evidence": [ { "id": "2475", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2475" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "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:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "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: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: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: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:3492", "name": "mixed connective tissue disease", "description": "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen.", "url": "https://disease-ontology.org/term/DOID:3492", "evidence": [ { "id": "3492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3492" } ], "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: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: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:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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:4692", "name": "endophthalmitis", "description": "A globe disease that is characterized by inflammation of the inside of the eye.", "url": "https://disease-ontology.org/term/DOID:4692", "evidence": [ { "id": "4692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4692" } ], "weight": 0.0 }, { "disease_id": "DOID:4752", "name": "multiple system atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:4752", "evidence": [ { "id": "4752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4752" } ], "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:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "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: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: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:6688", "name": "autoimmune lymphoproliferative syndrome", "description": "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.", "url": "https://disease-ontology.org/term/DOID:6688", "evidence": [ { "id": "6688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6688" } ], "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:687", "name": "hepatoblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:687", "evidence": [ { "id": "687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:687" } ], "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:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "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: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:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "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:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "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: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:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "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: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 }, { "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 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "tumor necrosis factor receptor activity", "id": "GO:0005031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005031", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" } ], "biological_process": [ { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "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": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "maternal process involved in female pregnancy", "id": "GO:0060135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060135", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to growth factor", "id": "GO:0070848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070848", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "T cell homeostasis", "id": "GO:0043029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043029", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species biosynthetic process", "id": "GO:1903428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903428", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "activation-induced cell death of T cells", "id": "GO:0006924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006924", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "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": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "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": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to cobalt ion", "id": "GO:0071279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071279", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "Q63199", "url": "https://www.uniprot.org/uniprotkb/Q63199" } ], "pmid": "" }, { "name": "negative regulation of Schwann cell 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"description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:0060688", "evidence": [ { "id": "0060688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ], "weight": 0.0 }, { "disease_id": "DOID:0080365", "name": "endometrial hyperplasia", "description": "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium.", "url": "https://disease-ontology.org/term/DOID:0080365", "evidence": [ { "id": "0080365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080365" } ], "weight": 0.0 }, { "disease_id": "DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.", "url": "https://disease-ontology.org/term/DOID:0080690", 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"DOID:0111359", "name": "large congenital melanocytic nevus", "description": "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5.", "url": "https://disease-ontology.org/term/DOID:0111359", "evidence": [ { "id": "0111359", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111359" } ], "weight": 0.0 }, { "disease_id": "DOID:0111461", "name": "cardiofaciocutaneous syndrome 2", "description": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0111461", "evidence": [ { "id": "0111461", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111461" } ], "weight": 0.0 }, { "disease_id": "DOID:0111530", "name": "linear nevus sebaceous syndrome", "description": "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0111530", "evidence": [ { "id": "0111530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111530" } ], "weight": 0.0 }, { "disease_id": "DOID:0111705", "name": "oculoectodermal syndrome", "description": "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.", "url": "https://disease-ontology.org/term/DOID:0111705", "evidence": [ { "id": "0111705", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111705" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "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:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "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: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: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: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "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: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: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: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: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:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2870", "name": "endometrial adenocarcinoma", "description": "An endometrial carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2870", "evidence": [ { "id": "2870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2870" } ], "weight": 0.0 }, { "disease_id": "DOID:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "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: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: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:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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:3078", "name": "anaplastic astrocytoma", "description": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.", "url": "https://disease-ontology.org/term/DOID:3078", "evidence": [ { "id": "3078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3078" } ], "weight": 0.0 }, { "disease_id": "DOID:3165", "name": "skin benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:3165", "evidence": [ { "id": "3165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3165" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "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:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension.", "url": "https://disease-ontology.org/term/DOID:4926", "evidence": [ { "id": "4926", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ], "weight": 0.0 }, { "disease_id": "DOID:4927", "name": "Klatskin's tumor", "description": "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts.", "url": "https://disease-ontology.org/term/DOID:4927", "evidence": [ { "id": "4927", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4927" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "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:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": "https://disease-ontology.org/term/DOID:591", "evidence": [ { "id": "591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:591" } ], "weight": 0.0 }, { "disease_id": "DOID:6726", "name": "fibrillary astrocytoma", "description": "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes.", "url": "https://disease-ontology.org/term/DOID:6726", "evidence": [ { "id": "6726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6726" } ], "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:686", "name": "liver carcinoma", "description": "A liver cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:686", "evidence": [ { "id": "686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:686" } ], "weight": 0.0 }, { "disease_id": "DOID:7235", "name": "pancreatic mucinous cystadenoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7235", "evidence": [ { "id": "7235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7235" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:8683", "name": "myeloid sarcoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8683", "evidence": [ { "id": "8683", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8683" } ], "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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "protein phosphatase type 1 complex", "id": "GO:0000164", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000164", "evidence": [ { "database": "UniProtKB", "id": "P08644", "url": 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"id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P21707", "url": "https://www.uniprot.org/uniprotkb/P21707" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "P21707", "url": "https://www.uniprot.org/uniprotkb/P21707" } ], "pmid": "" }, { "name": "calcium activated phospholipid scrambling", "id": "GO:0061588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061588", "evidence": [ { "database": "UniProtKB", "id": "P21707", "url": "https://www.uniprot.org/uniprotkb/P21707" } ], "pmid": "" }, { "name": "fast, calcium ion-dependent exocytosis of neurotransmitter", "id": "GO:0098746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098746", "evidence": [ { "database": "UniProtKB", "id": "P21707", "url": "https://www.uniprot.org/uniprotkb/P21707" } ], "pmid": "" }, { "name": 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3", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070248", "evidence": [ { "id": "0070248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070248" } ], "weight": 0.0 }, { "disease_id": "DOID:0070370", "name": "restrictive dermopathy 2", "description": "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0070370", "evidence": [ { "id": "0070370", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070370" } ], "weight": 0.0 }, { "disease_id": "DOID:0080334", "name": "aortic valve disease 2", "description": "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22.", "url": "https://disease-ontology.org/term/DOID:0080334", "evidence": [ { "id": "0080334", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080334" } ], "weight": 0.0 }, { "disease_id": "DOID:0081128", "name": "mandibuloacral dysplasia type A lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk.", "url": "https://disease-ontology.org/term/DOID:0081128", "evidence": [ { "id": "0081128", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081128" } ], "weight": 0.0 }, { "disease_id": "DOID:0110156", "name": "Charcot-Marie-Tooth disease type 2B1", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110156", "evidence": [ { "id": "0110156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110156" } ], "weight": 0.0 }, { "disease_id": "DOID:0110425", "name": "dilated cardiomyopathy 1A", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0110425", "evidence": [ { "id": "0110425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110425" } ], "weight": 0.0 }, { "disease_id": "DOID:0110640", "name": "congenital muscular dystrophy due to LMNA mutation", "description": "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0110640", "evidence": [ { "id": "0110640", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110640" } ], "weight": 0.0 }, { "disease_id": "DOID:0111584", "name": "dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome", "description": "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:0111584", "evidence": [ { "id": "0111584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111584" } ], "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:11712", "name": "lipoatrophic diabetes mellitus", "description": "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy.", "url": "https://disease-ontology.org/term/DOID:11712", "evidence": [ { "id": "11712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11712" } ], "weight": 0.0 }, { "disease_id": "DOID:11726", "name": "Emery-Dreifuss muscular dystrophy", "description": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.", "url": "https://disease-ontology.org/term/DOID:11726", "evidence": [ { "id": "11726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11726" } ], "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: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: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:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "disease_id": "DOID:5688", "name": "Werner syndrome", "description": "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8.", "url": "https://disease-ontology.org/term/DOID:5688", "evidence": [ { "id": "5688", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5688" } ], "weight": 0.0 }, { "disease_id": "DOID:66", "name": "muscle tissue disease", "description": "A muscular disease located in the muscle tissue.", "url": "https://disease-ontology.org/term/DOID:66", "evidence": [ { "id": "66", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:66" } ], "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:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID:9164", "name": "achalasia", "description": "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.", "url": "https://disease-ontology.org/term/DOID:9164", "evidence": [ { "id": "9164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9164" } ], "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:9884", "name": "muscular dystrophy", "description": "A myopathy is characterized by progressive skeletal muscle weakness degeneration.", "url": "https://disease-ontology.org/term/DOID:9884", "evidence": [ { "id": "9884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9884" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of telomere maintenance", "id": "GO:0032204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032204", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "protein localization to nuclear envelope", "id": "GO:0090435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090435", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "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": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "nuclear envelope organization", "id": "GO:0006998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006998", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "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": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "nucleus organization", "id": "GO:0006997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006997", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "establishment or maintenance of microtubule cytoskeleton polarity", "id": "GO:0030951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030951", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell proliferation", "id": "GO:0072201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072201", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "regulation of protein localization to nucleus", "id": "GO:1900180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900180", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "negative regulation of adipose tissue development", "id": "GO:1904178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904178", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "DNA double-strand break attachment to nuclear envelope", "id": "GO:1990683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990683", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "nuclear pore localization", "id": "GO:0051664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051664", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "protein phosphatase 1 binding", "id": "GO:0008157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008157", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" }, { "name": "structural constituent of nuclear lamina", "id": "GO:0160123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160123", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": "https://www.uniprot.org/uniprotkb/P48679" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P48679", "url": 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"name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q06000", "url": "https://www.uniprot.org/uniprotkb/Q06000" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q06000", "url": "https://www.uniprot.org/uniprotkb/Q06000" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q06000", "url": "https://www.uniprot.org/uniprotkb/Q06000" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "Q06000", "url": "https://www.uniprot.org/uniprotkb/Q06000" } 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum", "id": "GO:0016529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016529", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "cytoplasmic side of membrane", "id": "GO:0098562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098562", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": 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"https://www.uniprot.org/uniprotkb/Q62658" } ], "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": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "regulation of immune response", "id": "GO:0050776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050776", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "regulation of protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "Q62658", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "heart trabecula formation", "id": "GO:0060347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "id": "GO:0010881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010881", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "Q62658", "url": "https://www.uniprot.org/uniprotkb/Q62658" } ], "pmid": "" }, { "name": "cytokine-mediated 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"description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "weight": 0.0 }, { "disease_id": "DOID:10241", "name": "thalassemia", "description": "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains.", "url": "https://disease-ontology.org/term/DOID:10241", "evidence": [ { "id": "10241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10241" } ], "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:10320", "name": 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disease", "description": "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.", "url": "https://disease-ontology.org/term/DOID:10487", "evidence": [ { "id": "10487", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10487" } ], "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: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: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:11088", "name": "asphyxia neonatorum", "description": "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.", "url": "https://disease-ontology.org/term/DOID:11088", "evidence": [ { "id": "11088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11088" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "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: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:1210", "name": "optic neuritis", "description": "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision.", "url": "https://disease-ontology.org/term/DOID:1210", "evidence": [ { "id": "1210", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1210" } ], "weight": 0.0 }, { "disease_id": "DOID:12449", "name": "aplastic anemia", "description": "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow.", "url": "https://disease-ontology.org/term/DOID:12449", "evidence": [ { "id": "12449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12449" } ], "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: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: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:13636", "name": "Fanconi anemia", "description": "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.", "url": "https://disease-ontology.org/term/DOID:13636", "evidence": [ { "id": "13636", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13636" } ], "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: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: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: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:1584", "name": "acute chest syndrome", "description": "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.", "url": "https://disease-ontology.org/term/DOID:1584", "evidence": [ { "id": "1584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1584" } ], "weight": 0.0 }, { "disease_id": "DOID:161", "name": "keratosis", "description": "A skin disease characterized_by growth of keratin on the skin or mucous membranes.", "url": "https://disease-ontology.org/term/DOID:161", "evidence": [ { "id": "161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:161" } ], "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: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:2152", "name": "ovary epithelial cancer", "description": "An ovarian cancer that is derives_from ovarian surface epithelium.", "url": "https://disease-ontology.org/term/DOID:2152", "evidence": [ { "id": "2152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2152" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2596", "name": "larynx cancer", "description": "A respiratory system cancer that is located_in the larynx.", "url": "https://disease-ontology.org/term/DOID:2596", "evidence": [ { "id": "2596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2596" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "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:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "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:299", "name": "adenocarcinoma", "description": "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue.", "url": "https://disease-ontology.org/term/DOID:299", "evidence": [ { "id": "299", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:299" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": "https://disease-ontology.org/term/DOID:3069", "evidence": [ { "id": "3069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3069" } ], "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: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: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": "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:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "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:3883", "name": "Lynch syndrome", "description": "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.", "url": "https://disease-ontology.org/term/DOID:3883", "evidence": [ { "id": "3883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3883" } ], "weight": 0.0 }, { "disease_id": "DOID:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "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:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID: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:480", "name": "movement disease", "description": "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity.", "url": "https://disease-ontology.org/term/DOID:480", "evidence": [ { "id": "480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:480" } ], "weight": 0.0 }, { "disease_id": "DOID:4906", "name": "small intestine adenocarcinoma", "description": "A small intestine carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4906", "evidence": [ { "id": "4906", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4906" } ], "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", 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"https://www.alliancegenome.org/disease/DOID:5082" } ], "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:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID:615", "name": "leukopenia", "description": "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.", "url": "https://disease-ontology.org/term/DOID:615", "evidence": [ { "id": "615", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:615" } ], "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: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 }, { 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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:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "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: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": 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"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:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with 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"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: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 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight 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"name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "nickel cation binding", "id": "GO:0016151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016151", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P04905", "url": "https://www.uniprot.org/uniprotkb/P04905" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": 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"" }, { "name": "central nervous system neuron differentiation", "id": "GO:0021953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021953", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVA1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVA1" } ], "pmid": "" }, { "name": "regulation of keratinocyte proliferation", "id": "GO:0010837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010837", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVA1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVA1" } ], "pmid": "" }, { "name": "striatal medium spiny neuron differentiation", "id": "GO:0021773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021773", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVA1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVA1" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye development", "id": "GO:0031077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031077", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVA1", 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