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"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: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: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 } ], "biological_process": [ { "name": "skeletal muscle contraction", "id": "GO:0003009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003009", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "ATP metabolic process", "id": "GO:0046034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046034", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "myosin filament", "id": "GO:0032982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" }, { "name": "myosin II complex", "id": "GO:0016460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016460", "evidence": [ { "database": "UniProtKB", "id": "P12847", "url": "https://www.uniprot.org/uniprotkb/P12847" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P12847-1" }, { "uniprot_canonical_ac": "Q5Q0T9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5Q0T9", "url": "https://www.uniprot.org/uniprotkb/Q5Q0T9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 291, "chemical_mass": 31353.0, "gene_names": "Metrn;Hyrac;Metrn;RGD1306222", "protein_name": "Meteorin", "disease": [], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q5Q0T9", "url": "https://www.uniprot.org/uniprotkb/Q5Q0T9" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q5Q0T9", "url": "https://www.uniprot.org/uniprotkb/Q5Q0T9" } ], "pmid": "" } ], "molecular_function": [ { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "Q5Q0T9", "url": "https://www.uniprot.org/uniprotkb/Q5Q0T9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of axonogenesis", "id": "GO:0050772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050772", "evidence": [ { "database": "UniProtKB", "id": "Q5Q0T9", "url": "https://www.uniprot.org/uniprotkb/Q5Q0T9" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q5Q0T9", "url": "https://www.uniprot.org/uniprotkb/Q5Q0T9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5Q0T9-1" }, { "uniprot_canonical_ac": "Q02346-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 318, "chemical_mass": 34359.0, "gene_names": "Myod1;Myod1;Myod", "protein_name": "Myoblast determination protein 1", "disease": [ { "disease_id": "DOID:0081349", "name": "congenital myopathy 17", "description": "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0081349", "evidence": [ { "id": "0081349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081349" } ], "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:11723", "name": "Duchenne muscular dystrophy", "description": "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.", "url": "https://disease-ontology.org/term/DOID:11723", "evidence": [ { "id": "11723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11723" } ], "weight": 0.0 }, { "disease_id": "DOID:17", "name": "musculoskeletal system disease", "description": "A disease of anatomical entity that occurs in the muscular and/or skeletal system.", "url": "https://disease-ontology.org/term/DOID:17", "evidence": [ { "id": "17", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:17" } ], "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: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": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "myoblast fate determination", "id": "GO:0007518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007518", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "myotube cell development", "id": "GO:0014904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014904", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "protein unfolding", "id": "GO:0043335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043335", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "positive regulation of snRNA transcription by RNA polymerase II", "id": "GO:1905382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905382", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "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": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "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": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "skeletal muscle fiber adaptation", "id": "GO:0043503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043503", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "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": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "positive regulation of muscle cell differentiation", "id": "GO:0051149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051149", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "myoblast fusion", "id": "GO:0007520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007520", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "skeletal muscle atrophy", "id": "GO:0014732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014732", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "response to muscle stretch", "id": "GO:0035994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035994", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "positive regulation of myoblast fusion", "id": "GO:1901741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901741", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "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": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "muscle cell differentiation", "id": "GO:0042692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042692", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "negative regulation of myoblast proliferation", "id": "GO:2000818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000818", "evidence": [ { "database": "UniProtKB", "id": "Q02346", "url": "https://www.uniprot.org/uniprotkb/Q02346" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", 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"name": "cellular response to chromate", "id": "GO:0071247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071247", "evidence": [ { "database": "UniProtKB", "id": "P02803", "url": "https://www.uniprot.org/uniprotkb/P02803" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P02803-1" }, { "uniprot_canonical_ac": "P30904-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 115, "chemical_mass": 12477.0, "gene_names": "Mifl2;Mif;AC127887.1;LOC120102174;LOC679748;Mifl2;Mif", "protein_name": "Macrophage migration inhibitory factor", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", 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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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3462", "name": "hamartoma", "description": "A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.", "url": "https://disease-ontology.org/term/DOID:3462", "evidence": [ { "id": "3462", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3462" } ], "weight": 0.0 }, { "disease_id": "DOID:3612", "name": "retinitis", "description": "", "url": "https://disease-ontology.org/term/DOID:3612", "evidence": [ { "id": "3612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3612" } ], "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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID: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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 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 axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "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": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "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": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response", "id": "GO:0002675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002675", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of mature B cell apoptotic process", "id": "GO:0002906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002906", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to progesterone", "id": "GO:0032570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032570", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "brain renin-angiotensin system", "id": "GO:0002035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002035", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "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": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell apoptotic process", "id": "GO:0033033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033033", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "protein homotrimerization", "id": "GO:0070207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070207", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "P30904", "url": "https://www.uniprot.org/uniprotkb/P30904" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:1902166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902166", 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development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "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": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "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": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "regulation of tissue remodeling", "id": "GO:0034103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034103", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "cardiac right ventricle formation", "id": "GO:0003219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003219", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "cartilage morphogenesis", "id": "GO:0060536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060536", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "norepinephrine biosynthetic process", "id": "GO:0042421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042421", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "mesenchyme development", "id": "GO:0060485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060485", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "peripheral nervous system neuron development", "id": "GO:0048935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048935", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "determination of heart left/right asymmetry", "id": "GO:0061371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061371", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "apoptotic process involved in heart morphogenesis", "id": "GO:0003278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003278", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } ], "pmid": "" }, { "name": "regulation of secondary heart field cardioblast proliferation", "id": "GO:0003266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003266", "evidence": [ { "database": "UniProtKB", "id": "P61295", "url": "https://www.uniprot.org/uniprotkb/P61295" } 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"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:11724", "name": "limb-girdle muscular dystrophy", "description": "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles.", "url": "https://disease-ontology.org/term/DOID:11724", "evidence": [ { "id": "11724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11724" } ], "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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "oligosaccharide binding", "id": "GO:0070492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070492", "evidence": [ { "database": "UniProtKB", "id": "P98106", "url": "https://www.uniprot.org/uniprotkb/P98106" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P98106", "url": "https://www.uniprot.org/uniprotkb/P98106" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "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": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of dendrite 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"https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "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": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { 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"url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "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": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": 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neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "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": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "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": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "negative regulation of nitric-oxide synthase activity", "id": "GO:0051001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051001", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "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": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of synaptic assembly at neuromuscular junction", "id": "GO:0045887", "url": 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regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of neuronal synaptic plasticity", "id": "GO:0048168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "hepatocyte apoptotic process", "id": "GO:0097284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097284", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "regulation of long-term synaptic potentiation", "id": "GO:1900271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900271", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "negative regulation of dendrite development", "id": "GO:2000171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000171", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of DNA biosynthetic process", "id": "GO:2000573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000573", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell differentiation", "id": "GO:2000727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000727", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P18266", "url": "https://www.uniprot.org/uniprotkb/P18266" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", 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The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0050840", "name": "cervical dystonia", "description": "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.", "url": "https://disease-ontology.org/term/DOID:0050840", "evidence": [ { "id": "0050840", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050840" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by 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phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "weight": 0.0 }, { "disease_id": "DOID:0060532", "name": "latex allergy", "description": "An allergic disease that is triggered by latex.", "url": "https://disease-ontology.org/term/DOID:0060532", "evidence": [ { "id": "0060532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060532" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": 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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:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:10772", "name": "thrombotic thrombocytopenic purpura", "description": "", "url": "https://disease-ontology.org/term/DOID:10772", "evidence": [ { "id": "10772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10772" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11165", "name": "common wart", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.", "url": "https://disease-ontology.org/term/DOID:11165", "evidence": [ { "id": "11165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11165" } ], "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:11336", "name": "rhinoscleroma", "description": "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.", "url": "https://disease-ontology.org/term/DOID:11336", "evidence": [ { "id": "11336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11336" } ], "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:11656", "name": "cicatricial pemphigoid", "description": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.", "url": "https://disease-ontology.org/term/DOID:11656", "evidence": [ { "id": "11656", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11656" } ], "weight": 0.0 }, { "disease_id": "DOID:11829", "name": "degenerative myopia", "description": "", "url": "https://disease-ontology.org/term/DOID:11829", "evidence": [ { "id": "11829", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11829" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "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:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:12859", "name": "choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.", "url": "https://disease-ontology.org/term/DOID:12859", "evidence": [ { "id": "12859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ], "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:12987", "name": "agranulocytosis", "description": "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm of blood.", "url": "https://disease-ontology.org/term/DOID:12987", "evidence": [ { "id": "12987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12987" } ], "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:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "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:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "weight": 0.0 }, { "disease_id": "DOID:1340", "name": "pure red-cell aplasia", "description": "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.", "url": "https://disease-ontology.org/term/DOID:1340", "evidence": [ { "id": "1340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1340" } ], "weight": 0.0 }, { "disease_id": "DOID:13774", "name": "Addison's disease", "description": "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:13774", "evidence": [ { "id": "13774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13774" } ], "weight": 0.0 }, { "disease_id": "DOID:14040", "name": "autoimmune polyendocrine syndrome", "description": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:14040", "evidence": [ { "id": "14040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14040" } ], "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: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:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1586", "name": "rheumatic fever", "description": "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:1586", "evidence": [ { "id": "1586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1586" } ], "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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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:216", "name": "dental caries", "description": "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooths surface, or enamel.", "url": "https://disease-ontology.org/term/DOID:216", "evidence": [ { "id": "216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:216" } ], "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: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: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:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:401", "name": "multidrug-resistant tuberculosis", "description": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.", "url": "https://disease-ontology.org/term/DOID:401", "evidence": [ { "id": "401", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:401" } ], "weight": 0.0 }, { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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: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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "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: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: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: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: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:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8929", "name": "atrophic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8929", "evidence": [ { "id": "8929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "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:9383", "name": "iridocyclitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9383", "evidence": [ { "id": "9383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9383" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 }, { "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": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class II protein complex", "id": "GO:0002503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002503", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "cellular response to morphine", "id": "GO:0071315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071315", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide antigen", "id": "GO:0048002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048002", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" } ], "molecular_function": [ { "name": "MHC class II protein complex binding", "id": "GO:0023026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023026", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P29826", "url": "https://www.uniprot.org/uniprotkb/P29826" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P29826-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Asn46", "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": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "P29826", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P29826#ptm_processing" } ] } ] } ], "record_id": "P29826-1" }, { "uniprot_canonical_ac": "Q5RKG2-1", "species": [ { "name": 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"name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q5XIE9", "url": "https://www.uniprot.org/uniprotkb/Q5XIE9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5XIE9-1" }, { "uniprot_canonical_ac": "P46153-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 587, "chemical_mass": 59168.0, "gene_names": "Gata6;Gata6", "protein_name": "Transcription factor GATA-6", "disease": [ { "disease_id": "DOID:0050453", "name": "lissencephaly", "description": "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 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"id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle myoblast proliferation", "id": "GO:0110024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110024", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta2 production", "id": "GO:0032912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032912", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta1 production", "id": "GO:0032911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032911", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "lung saccule development", "id": "GO:0060430", "url": 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"GO:0003163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003163", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "negative regulation of sebum secreting cell proliferation", "id": "GO:1904003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904003", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "tissue development", "id": 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"https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46153-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46153", "url": "https://www.uniprot.org/uniprotkb/P46153" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P46153", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46153" } ] } ] } ], "record_id": "P46153-1" }, { "uniprot_canonical_ac": "P20037-1", "species": [ { "name": "Rattus 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It is more heterogeneous and has not been linked to one gene.", "url": "https://disease-ontology.org/term/DOID:0050168", "evidence": [ { "id": "0050168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ], "weight": 0.0 }, { "disease_id": "DOID:0050748", "name": "marginal zone lymphoma", "description": "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.", "url": "https://disease-ontology.org/term/DOID:0050748", "evidence": [ { "id": "0050748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050748" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0050909", "name": "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue", "description": "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production.", "url": "https://disease-ontology.org/term/DOID:0050909", "evidence": [ { "id": "0050909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050909" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "disease_id": "DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "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:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11336", "name": "rhinoscleroma", "description": "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.", "url": "https://disease-ontology.org/term/DOID:11336", "evidence": [ { "id": "11336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11336" } ], "weight": 0.0 }, { "disease_id": "DOID:11678", "name": "onchocerciasis", "description": "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy.", "url": "https://disease-ontology.org/term/DOID:11678", "evidence": [ { "id": "11678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11678" } ], "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: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:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12859", "name": "choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.", "url": "https://disease-ontology.org/term/DOID:12859", "evidence": [ { "id": "12859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ], "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: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:13336", "name": "congenital toxoplasmosis", "description": "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur.", "url": "https://disease-ontology.org/term/DOID:13336", "evidence": [ { "id": "13336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13336" } ], "weight": 0.0 }, { "disease_id": "DOID:14040", "name": "autoimmune polyendocrine syndrome", "description": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:14040", "evidence": [ { "id": "14040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14040" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1586", "name": "rheumatic fever", "description": "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:1586", "evidence": [ { "id": "1586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1586" } ], "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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "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:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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: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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 }, { "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": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" } ], "biological_process": [ { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class II protein complex", "id": "GO:0002503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002503", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "cellular response to glucocorticoid stimulus", "id": "GO:0071385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071385", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation", "id": "GO:0045582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045582", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "antigen processing and presentation", "id": "GO:0019882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019882", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide antigen", "id": "GO:0048002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048002", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide or polysaccharide antigen via MHC class II", "id": "GO:0002504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002504", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" } ], "molecular_function": [ { "name": "MHC class II protein complex binding", "id": "GO:0023026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023026", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P20037", "url": "https://www.uniprot.org/uniprotkb/P20037" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030091", "evidence": [ { "database": "UniProtKB", "id": "Q52KJ8", "url": "https://www.uniprot.org/uniprotkb/Q52KJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q52KJ8-1" }, { "uniprot_canonical_ac": "F7F5A1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 463, "chemical_mass": 49631.0, "gene_names": "Ube2e3", "protein_name": "E2 ubiquitin-conjugating enzyme", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" }, { "name": "ubiquitin conjugating enzyme activity", "id": "GO:0061631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061631", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" } ], "biological_process": [ { "name": "protein K11-linked ubiquitination", "id": "GO:0070979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070979", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" }, { "name": "protein K63-linked ubiquitination", "id": "GO:0070534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070534", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "F7F5A1", "url": "https://www.uniprot.org/uniprotkb/F7F5A1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F7F5A1-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Thr69", "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": 69, "start_aa": "Thr", "end_pos": 69, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr69", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F7F5A1-1" }, { "uniprot_canonical_ac": "P27645-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P27645", "url": "https://www.uniprot.org/uniprotkb/P27645" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 267, "chemical_mass": 30282.0, "gene_names": "Fcgr2al1;Fcgr2a;Fcgr2b;Fcgr3;Fcgr2a-ps1;Fcgr2al1;Fcgr2a;Fcgr3a;Fcgr3;LOC134481532;LOC498276;fc-gamma RIII;fcRIII", "protein_name": "Low affinity immunoglobulin gamma Fc region receptor III", "disease": [ { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080179", "name": "haemophilus meningitis", "description": "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection.", "url": "https://disease-ontology.org/term/DOID:0080179", "evidence": [ { "id": "0080179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080179" } ], "weight": 0.0 }, { "disease_id": "DOID:1037", "name": "lymphoid leukemia", "description": "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:1037", "evidence": [ { "id": "1037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1037" } ], "weight": 0.0 }, { "disease_id": "DOID:1098", "name": "hemolytic disease of the fetus", "description": "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.", "url": "https://disease-ontology.org/term/DOID:1098", "evidence": [ { "id": "1098", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1098" } ], "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:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "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: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: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:1556", "name": "arthus reaction", "description": "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.", "url": "https://disease-ontology.org/term/DOID:1556", "evidence": [ { "id": "1556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1556" } ], "weight": 0.0 }, { "disease_id": "DOID:1579", "name": "respiratory system disease", "description": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.", "url": "https://disease-ontology.org/term/DOID:1579", "evidence": [ { "id": "1579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1579" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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", 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"common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1277, "chemical_mass": 141387.0, "gene_names": "Abcb1a;Abcb1b;Abcb1;Abcb4;Abcb1a;Abcb1b;Abcb1;Abcb4;Mdr1b;Mdr1;Pgy1", "protein_name": "ATP-dependent translocase ABCB1", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0060750", "name": "familial temporal lobe epilepsy 3", "description": "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3.", "url": "https://disease-ontology.org/term/DOID:0060750", "evidence": [ { "id": "0060750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060750" } ], "weight": 0.0 }, { "disease_id": "DOID:0070223", "name": "progressive familial intrahepatic cholestasis 3", "description": "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12.", "url": "https://disease-ontology.org/term/DOID:0070223", "evidence": [ { "id": "0070223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070223" } ], "weight": 0.0 }, { "disease_id": "DOID:0070229", "name": "intrahepatic cholestasis of pregnancy 3", "description": "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.", "url": "https://disease-ontology.org/term/DOID:0070229", "evidence": [ { "id": "0070229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070229" } ], "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: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:0110893", "name": "inflammatory bowel disease 13", "description": "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1.", "url": "https://disease-ontology.org/term/DOID:0110893", "evidence": [ { "id": "0110893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110893" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "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:10939", "name": "antisocial personality disorder", "description": "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood.", "url": "https://disease-ontology.org/term/DOID:10939", "evidence": [ { "id": "10939", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10939" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:1852", "name": "intrahepatic cholestasis", "description": "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.", "url": "https://disease-ontology.org/term/DOID:1852", "evidence": [ { "id": "1852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1852" } ], "weight": 0.0 }, { "disease_id": "DOID:1949", "name": "cholecystitis", "description": "A cholangitis that is characterized by an inflammation that is located in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:1949", "evidence": [ { "id": "1949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1949" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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: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: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:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9588", "name": "encephalitis", "description": "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms.", "url": "https://disease-ontology.org/term/DOID:9588", "evidence": [ { "id": "9588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9588" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to arsenic-containing substance", 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"" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "response to L-glutamate", "id": "GO:1902065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902065", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "protein localization to bicellular tight junction", "id": "GO:1902396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902396", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "cellular response to antibiotic", "id": "GO:0071236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071236", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "stem cell proliferation", "id": "GO:0072089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072089", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "response to glucagon", "id": "GO:0033762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033762", "evidence": [ { "database": "UniProtKB", "id": "P43245", "url": "https://www.uniprot.org/uniprotkb/P43245" } ], "pmid": "" }, { "name": "cellular response to 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], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ], "pmid": "" }, { "name": "MCM8-MCM9 complex", "id": "GO:0097362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097362", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ], "pmid": "" }, { "name": 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"recombinational interstrand cross-link repair", "id": "GO:0036298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036298", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ], "pmid": "" }, { "name": "mismatch repair involved in maintenance of fidelity involved in DNA-dependent DNA replication", "id": "GO:0070716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070716", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F1M5F3-1", "start_pos": "753", "end_pos": "753", "site_lbl": "Ser753", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "F1M5F3", "url": "https://www.uniprot.org/uniprotkb/F1M5F3" } ] } ] } ], "record_id": "F1M5F3-1" }, { "uniprot_canonical_ac": "P22199-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 981, "chemical_mass": 106737.0, "gene_names": "Nr3c2;Mlr", "protein_name": "Mineralocorticoid receptor", "disease": [ { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": "0050696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ], "weight": 0.0 }, { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by 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"description": "", "url": "https://disease-ontology.org/term/DOID:4479", "evidence": [ { "id": "4479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4479" } ], "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 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], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "postsynaptic density, intracellular component", "id": "GO:0099092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" } ], "biological_process": [ { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "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": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "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": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "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": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "P22199", "url": "https://www.uniprot.org/uniprotkb/P22199" } ], "pmid": "" }, { "name": 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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: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: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:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14654" } ], "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: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "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": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "positive regulation of neutrophil mediated killing of fungus", "id": "GO:0070965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070965", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic stem cell proliferation", "id": "GO:1902035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902035", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "cellular response to interleukin-17", "id": "GO:0097398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097398", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "response to lipid", "id": "GO:0033993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033993", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" } ], "molecular_function": [ { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P14095", "url": "https://www.uniprot.org/uniprotkb/P14095" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P14095-1" }, { "uniprot_canonical_ac": "P97700-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 314, "chemical_mass": 34244.0, "gene_names": "Slc25a11;Slc20a4;Slc25a11", "protein_name": "Mitochondrial 2-oxoglutarate/malate carrier protein", "disease": [ { "disease_id": "DOID:0061221", "name": "pheochromocytoma/paraganglioma syndrome 6", "description": "A paraganglioma characterized by the development of neuroendocrine neoplasms, known as paragangliomas that has material_basis_in heterozygous mutation in the SLC25A11 gene on chromosome 17p13.", "url": "https://disease-ontology.org/term/DOID:0061221", "evidence": [ { "id": "0061221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061221" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "alpha-ketoglutarate transmembrane transporter activity", "id": "GO:0015139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015139", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" }, { "name": "transmembrane transporter activity", "id": "GO:0022857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022857", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" }, { "name": "oxoglutarate:malate antiporter activity", "id": "GO:0015367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015367", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" }, { "name": "antiporter activity", "id": "GO:0015297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015297", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" } ], "biological_process": [ { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" }, { "name": "malate-aspartate shuttle", "id": "GO:0043490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043490", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "P97700", "url": "https://www.uniprot.org/uniprotkb/P97700" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P97700-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Ser52", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 52, "start_aa": "Ser", "end_pos": 52, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser52", "evidence": [ { "id": "28100784", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28100784" }, { "id": "P97700", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P97700" }, { "id": "38843836", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38843836" }, { "id": "26446791", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26446791" }, { "id": "27213235", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/27213235" }, { "id": "P97700", "database": 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10116, "evidence": [ { "database": "UniProtKB", "id": "P39020", "url": "https://www.uniprot.org/uniprotkb/P39020" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 303, "chemical_mass": 33605.0, "gene_names": "Meox2;Gax;Meox2;Mox-2;Mox2", "protein_name": "Homeobox protein MOX-2", "disease": [ { "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 } ], "biological_process": [ { "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": "P39020", "url": "https://www.uniprot.org/uniprotkb/P39020" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P39020", "url": "https://www.uniprot.org/uniprotkb/P39020" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P39020", "url": "https://www.uniprot.org/uniprotkb/P39020" } ], "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": "P39020", "url": "https://www.uniprot.org/uniprotkb/P39020" } ], "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": "P39020", 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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": "G3V777", "url": "https://www.uniprot.org/uniprotkb/G3V777" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G3V777", "url": "https://www.uniprot.org/uniprotkb/G3V777" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "G3V777", "url": "https://www.uniprot.org/uniprotkb/G3V777" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V777", "url": "https://www.uniprot.org/uniprotkb/G3V777" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "G3V777", "url": "https://www.uniprot.org/uniprotkb/G3V777" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V777-1" }, { "uniprot_canonical_ac": "G3V783-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 539, "chemical_mass": 60777.0, "gene_names": "Ripk2;Ripk2", "protein_name": "Receptor-interacting serine/threonine-protein kinase 2", "disease": [], "biological_process": [ { "name": "nucleotide-binding oligomerization domain containing 1 signaling pathway", "id": "GO:0070427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070427", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "nucleotide-binding oligomerization domain containing 2 signaling pathway", "id": "GO:0070431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070431", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of cytokine-mediated signaling pathway", "id": "GO:0001961", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001961", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "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": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "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": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "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": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of interleukin-2 production", "id": "GO:0032743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032743", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 cell differentiation", "id": "GO:0045627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045627", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "cellular response to muramyl dipeptide", "id": "GO:0071225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071225", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "cellular response to peptidoglycan", "id": "GO:0071224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071224", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "toll-like receptor 2 signaling pathway", "id": "GO:0034134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034134", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "toll-like receptor 4 signaling pathway", "id": "GO:0034142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034142", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of immature T cell proliferation", "id": "GO:0033091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033091", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of protein K63-linked ubiquitination", "id": "GO:1902523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902523", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell proliferation", "id": "GO:0046641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046641", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of stress-activated MAPK cascade", "id": "GO:0032874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032874", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "response to interleukin-12", "id": "GO:0070671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070671", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of xenophagy", "id": "GO:1904417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904417", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "response to interleukin-18", "id": "GO:0070673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070673", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of T-helper 1 type immune response", "id": "GO:0002827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002827", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of metabolic process", "id": "GO:0009893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009893", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "positive regulation of defense response", "id": "GO:0031349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031349", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "LIM domain binding", "id": "GO:0030274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030274", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": "https://www.uniprot.org/uniprotkb/G3V783" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "G3V783", "url": 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"https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006635", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "bile acid biosynthetic process", "id": "GO:0006699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006699", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "C21-steroid hormone metabolic process", "id": "GO:0008207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008207", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "androgen metabolic process", "id": "GO:0008209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008209", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "L-isoleucine catabolic process", "id": "GO:0006550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006550", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "tRNA 3'-end processing", "id": "GO:0042780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042780", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "mitochondrial tRNA methylation", "id": "GO:0070901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070901", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "tRNA 3'-terminal CCA addition", "id": "GO:0001680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001680", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "mitochondrial tRNA 3'-end processing", "id": "GO:1990180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990180", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "mitochondrial tRNA 5'-end processing", "id": "GO:0097745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097745", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "mitochondrial nucleoid", "id": "GO:0042645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042645", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "catalytic complex", "id": "GO:1902494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902494", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "mitochondrial ribonuclease P complex", "id": "GO:0030678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030678", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "tRNA methyltransferase complex", "id": "GO:0043527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043527", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "endoribonuclease complex", "id": "GO:1902555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902555", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "tRNA binding", "id": "GO:0000049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000049", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "estradiol 17-beta-dehydrogenase [NAD(P)+] activity", "id": "GO:0004303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004303", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NAD+) activity", "id": "GO:0047035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047035", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "17-beta-hydroxysteroid dehydrogenase (NAD+) activity", "id": "GO:0044594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044594", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity", "id": "GO:0003857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003857", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "cholate 7-alpha-dehydrogenase (NAD+) activity", "id": "GO:0008709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008709", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity", "id": "GO:0047015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047015", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "acetoacetyl-CoA reductase activity", "id": "GO:0018454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018454", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity", "id": "GO:0047044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047044", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "chenodeoxycholate 7-alpha-dehydrogenase (NAD+) activity", "id": "GO:0106281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106281", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "isoursodeoxycholate 7-beta-dehydrogenase (NAD+) activity", "id": "GO:0106282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106282", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "ursodeoxycholate 7-beta-dehydrogenase (NAD+) activity", "id": "GO:0106283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106283", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "cardiolipin dehydrogenase (NAD+) activity", "id": "GO:0160241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160241", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "O70351", "url": "https://www.uniprot.org/uniprotkb/O70351" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O70351-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Ser219", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 219, "start_aa": "Ser", "end_pos": 219, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser219", "evidence": [ { "id": "28100784", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28100784" }, { "id": "O70351", "database": "O-GlcNAc Database", "url": 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"uniprot_canonical_ac": "O88204-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asn71", "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": 71, "start_aa": "Asn", "end_pos": 71, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn71", "evidence": [ { "id": "O88204", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88204#ptm_processing" } ] } ] } ], "record_id": "O88204-1" }, { "uniprot_canonical_ac": "O88206-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O88206", "url": "https://www.uniprot.org/uniprotkb/O88206" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 124, "chemical_mass": 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}, { "disease_id": "DOID:3315", "name": "lipoma", "description": "A cell type benign neoplasm that is composed of lipocytes.", "url": "https://disease-ontology.org/term/DOID:3315", "evidence": [ { "id": "3315", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3315" } ], "weight": 0.0 }, { "disease_id": "DOID:3462", "name": "hamartoma", "description": "A benign neoplasm characterized by disorganized tissue formed by a mixture of cells native to a particular anatomical location.", "url": "https://disease-ontology.org/term/DOID:3462", "evidence": [ { "id": "3462", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3462" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of growth hormone secretion", "id": "GO:0060123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060123", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "positive regulation 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regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "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": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "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": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "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": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of single stranded viral RNA replication via double stranded DNA intermediate", "id": "GO:0045869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045869", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "positive regulation of protein serine/threonine kinase activity", "id": "GO:0071902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071902", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "cell proliferation in forebrain", "id": "GO:0021846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021846", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "fat pad development", "id": "GO:0060613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060613", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "regulation of peptide hormone secretion", "id": "GO:0090276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090276", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "host-mediated suppression of viral transcription", "id": "GO:0043922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043922", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of intracellular steroid hormone receptor signaling pathway", "id": "GO:0033144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033144", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "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": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of DNA binding", "id": "GO:0043392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043392", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "mesodermal cell differentiation", "id": "GO:0048333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048333", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation in bone marrow", "id": "GO:0071864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071864", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "mesodermal-endodermal cell signaling", "id": "GO:0003131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003131", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "oncogene-induced cell senescence", "id": "GO:0090402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090402", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "negative regulation of double-strand break repair via nonhomologous end joining", "id": "GO:2001033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001033", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" } ], "molecular_function": [ { "name": "5'-deoxyribose-5-phosphate lyase activity", "id": "GO:0051575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051575", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "minor groove of adenine-thymine-rich DNA binding", "id": "GO:0003680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003680", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "DNA binding, bending", "id": "GO:0008301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008301", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "DNA-(apurinic or apyrimidinic site) endonuclease activity", "id": "GO:0003906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003906", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "cAMP response element binding", "id": "GO:0035497", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031492", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "MH1 domain binding", "id": "GO:0035501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035501", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "SMAD protein complex", "id": "GO:0071141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071141", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" }, { "name": "senescence-associated heterochromatin focus", "id": "GO:0035985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035985", "evidence": [ { "database": "UniProtKB", "id": "O88791", "url": "https://www.uniprot.org/uniprotkb/O88791" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88791-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Thr21", "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": 21, "start_aa": "Thr", "end_pos": 21, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr21", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "O88791-1" }, { "uniprot_canonical_ac": "O89117-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 69, "chemical_mass": 7837.0, "gene_names": "Defb1;CDK4;Defb1", "protein_name": "Beta-defensin 1", "disease": [ { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "microvesicle", "id": "GO:1990742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990742", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "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": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "innate immune response in mucosa", "id": "GO:0002227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002227", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "killing of cells of another organism", "id": "GO:0031640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031640", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "positive regulation of flagellated sperm motility involved in capacitation", "id": "GO:0060474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060474", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" }, { "name": "CCR6 chemokine receptor binding", "id": "GO:0031731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031731", "evidence": [ { "database": "UniProtKB", "id": "O89117", "url": "https://www.uniprot.org/uniprotkb/O89117" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O89117-1" }, { "uniprot_canonical_ac": "P00159-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 380, "chemical_mass": 43012.0, "gene_names": "Mt-cyb;CYTB;Cob;Cytb;Mtcyb", "protein_name": "Cytochrome b", "disease": [ { "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: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:7997", "name": "thyrotoxicosis", "description": "A thyroid gland disease that is characterized by excess thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7997", "evidence": [ { "id": "7997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7997" } ], "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 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "respiratory chain complex III", "id": "GO:0045275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045275", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" } ], "biological_process": [ { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to mercury ion", "id": "GO:0046689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046689", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to glucagon", "id": "GO:0033762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033762", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "mitochondrial electron transport, ubiquinol to cytochrome c", "id": "GO:0006122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to cobalamin", "id": "GO:0033590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033590", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "electron transport coupled proton transport", "id": "GO:0015990", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015990", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "response to D-galactosamine", "id": "GO:1904421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904421", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" }, { "name": "quinol-cytochrome-c reductase activity", "id": "GO:0008121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008121", "evidence": [ { "database": "UniProtKB", "id": "P00159", "url": "https://www.uniprot.org/uniprotkb/P00159" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P00159-1" }, { "uniprot_canonical_ac": "P00388-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 678, "chemical_mass": 76963.0, "gene_names": "Por;CYPOR;POR;Por", "protein_name": "NADPH--cytochrome P450 reductase", "disease": [ { "disease_id": "DOID:0050462", "name": "Antley-Bixler syndrome with disordered steroidogenesis", "description": "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.", "url": "https://disease-ontology.org/term/DOID:0050462", "evidence": [ { "id": "0050462", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050462" } ], "weight": 0.0 }, { "disease_id": 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"https://www.alliancegenome.org/disease/DOID:0080925" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": 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"evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "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": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "demethylation", "id": "GO:0070988", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070988", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "carnitine metabolic process", "id": "GO:0009437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009437", "evidence": [ 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "FMN binding", "id": "GO:0010181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010181", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "iron-cytochrome-c reductase activity", "id": "GO:0047726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047726", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "nitric oxide dioxygenase NAD(P)H activity", "id": "GO:0008941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008941", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "NADPH-hemoprotein reductase activity", "id": "GO:0003958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003958", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" }, { "name": "cytochrome-b5 reductase activity, acting on NAD(P)H", "id": "GO:0004128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004128", "evidence": [ { "database": "UniProtKB", "id": "P00388", "url": "https://www.uniprot.org/uniprotkb/P00388" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P00388-1" }, { "uniprot_canonical_ac": "P00502-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P00502", "url": "https://www.uniprot.org/uniprotkb/P00502" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 222, "chemical_mass": 25607.0, "gene_names": "Gsta1;GST B;Gsta1;Gsta2", "protein_name": "Glutathione S-transferase alpha-1", "disease": [ { "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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"P00502", "url": "https://www.uniprot.org/uniprotkb/P00502" } ], "pmid": "" }, { "name": "dinitrosyl-iron complex binding", "id": "GO:0035731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035731", "evidence": [ { "database": "UniProtKB", "id": "P00502", "url": "https://www.uniprot.org/uniprotkb/P00502" } ], "pmid": "" }, { "name": "peroxidase activity", "id": "GO:0004601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004601", "evidence": [ { "database": "UniProtKB", "id": "P00502", "url": "https://www.uniprot.org/uniprotkb/P00502" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00502", "url": "https://www.uniprot.org/uniprotkb/P00502" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P00502", "url": 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"Ser33", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04462", "url": "https://www.uniprot.org/uniprotkb/P04462" } ] } ] }, { "uniprot_canonical_ac": "P04462-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Ser45", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04462", "url": "https://www.uniprot.org/uniprotkb/P04462" } ] } ] }, { "uniprot_canonical_ac": "P04462-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Ser58", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04462", "url": "https://www.uniprot.org/uniprotkb/P04462" } ] } ] } ], "record_id": "P04462-1" }, { "uniprot_canonical_ac": "P04563-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": 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"database": "UniProtKB", "id": "P04563", "url": "https://www.uniprot.org/uniprotkb/P04563" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P04563-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Ser96", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P04563", "url": "https://www.uniprot.org/uniprotkb/P04563" }, { "database": "PubMed", "id": "1701434", "url": "https://glygen.org/publication/PubMed/1701434" }, { "database": "iPTMnet", "id": "P04563", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04563" } ] } ] } ], "record_id": "P04563-1" }, { "uniprot_canonical_ac": "P04906-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 210, "chemical_mass": 23439.0, "gene_names": "Gstp1;GST-P;Gst3;Gstp1;Gstp2;Gstp", "protein_name": "Glutathione S-transferase P", "disease": [ { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060500", "name": "drug allergy", "description": "An allergic disease that is triggered by a drug.", "url": "https://disease-ontology.org/term/DOID:0060500", "evidence": [ { "id": "0060500", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060500" } ], "weight": 0.0 }, { "disease_id": "DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age.", "url": "https://disease-ontology.org/term/DOID:0060892", "evidence": [ { "id": "0060892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060892" } ], "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:1037", "name": "lymphoid leukemia", "description": "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:1037", "evidence": [ { "id": "1037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1037" } ], "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: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: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:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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. 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"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: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: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: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:1579", "name": "respiratory system disease", "description": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.", "url": "https://disease-ontology.org/term/DOID:1579", "evidence": [ { "id": "1579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1579" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:2998", "name": "testicular cancer", "description": "A male reproductive system cancer that is located_in the testicles.", "url": "https://disease-ontology.org/term/DOID:2998", "evidence": [ { "id": "2998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2998" } ], "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: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: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: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: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: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:3904", "name": "bronchus carcinoma", "description": "A bronchus cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3904", "evidence": [ { "id": "3904", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3904" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4250", "name": "conjunctivochalasis", "description": "", "url": "https://disease-ontology.org/term/DOID:4250", "evidence": [ { "id": "4250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4250" } ], "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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "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: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: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:4961", "name": "bone marrow disease", "description": "A hematopoietic system disease that is located_in the bone marrow.", "url": "https://disease-ontology.org/term/DOID:4961", "evidence": [ { "id": "4961", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4961" } ], "weight": 0.0 }, { "disease_id": "DOID:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "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:74", "name": "hematopoietic system disease", "description": "A disease of anatomical entity that has_material_basis_in hematopoietic cells.", "url": "https://disease-ontology.org/term/DOID:74", "evidence": [ { "id": "74", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:74" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:9471", "name": "meningitis", "description": "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells.", "url": "https://disease-ontology.org/term/DOID:9471", "evidence": [ { "id": "9471", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9471" } ], "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:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "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 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: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 } ], "molecular_function": [ { "name": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "fatty acid binding", "id": "GO:0005504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005504", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "S-nitrosoglutathione binding", "id": "GO:0035730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035730", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "dinitrosyl-iron complex binding", "id": "GO:0035731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035731", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "JUN kinase binding", "id": "GO:0008432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008432", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "protein serine/threonine kinase inhibitor activity", "id": "GO:0030291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030291", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" } ], "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": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "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": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "linoleic acid metabolic process", "id": "GO:0043651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043651", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P04906", "url": "https://www.uniprot.org/uniprotkb/P04906" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "P04906", 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], "pmid": "" }, { "name": "cellular response to lead ion", "id": "GO:0071284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071284", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "response to herbicide", "id": "GO:0009635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009635", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": 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"lead ion binding", "id": "GO:0032791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032791", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "porphobilinogen synthase activity", "id": "GO:0004655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004655", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "proteasome core complex binding", "id": "GO:1904854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904854", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P06214-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Ser215", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06214", "url": "https://www.uniprot.org/uniprotkb/P06214" } ] } ] } ], "record_id": "P06214-1" }, { "uniprot_canonical_ac": "P06341-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 233, "chemical_mass": 26827.0, "gene_names": "RT1-B", "protein_name": "Rano class II histocompatibility antigen, A beta chain", "disease": [ { "disease_id": "DOID:0040091", "name": "autoimmune pancreatitis", "description": "An autoimmune disease of endocrine system that is located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:0040091", "evidence": [ { "id": "0040091", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0040091" } ], "weight": 0.0 }, { "disease_id": "DOID:0050012", "name": "chikungunya", "description": "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus (Alphavirus chikungunya), which is transmitted_by Aedes mosquito bite. 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The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.", "url": "https://disease-ontology.org/term/DOID:0050426", "evidence": [ { "id": "0050426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ], "weight": 0.0 }, { "disease_id": "DOID:0050748", "name": "marginal zone lymphoma", "description": "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes.", "url": "https://disease-ontology.org/term/DOID:0050748", "evidence": [ { "id": "0050748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050748" } ], "weight": 0.0 }, { "disease_id": "DOID:0050784", "name": "primary progressive multiple sclerosis", "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. 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The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0050840", "name": "cervical dystonia", "description": "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards.", "url": "https://disease-ontology.org/term/DOID:0050840", "evidence": [ { "id": "0050840", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050840" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060025", "name": "immunoglobulin alpha deficiency", "description": "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor.", "url": "https://disease-ontology.org/term/DOID:0060025", "evidence": [ { "id": "0060025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060025" } ], "weight": 0.0 }, { "disease_id": "DOID:0060284", "name": "paroxysmal nocturnal hemoglobinuria", "description": "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system.", "url": "https://disease-ontology.org/term/DOID:0060284", "evidence": [ { "id": "0060284", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060284" } ], "weight": 0.0 }, { "disease_id": "DOID:0060532", "name": "latex allergy", "description": "An allergic disease that is triggered by latex.", "url": "https://disease-ontology.org/term/DOID:0060532", "evidence": [ { "id": "0060532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060532" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0060851", "name": "pemphigus vulgaris", "description": "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance.", "url": "https://disease-ontology.org/term/DOID:0060851", "evidence": [ { "id": "0060851", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060851" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "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:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22.", "url": "https://disease-ontology.org/term/DOID:0110429", "evidence": [ { "id": "0110429", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ], "weight": 0.0 }, { "disease_id": "DOID:1019", "name": "osteomyelitis", "description": "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow.", "url": "https://disease-ontology.org/term/DOID:1019", "evidence": [ { "id": "1019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1019" } ], "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: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:10316", "name": "pneumoconiosis", "description": "An interstitial lung disease that is caused by the inhalation of dust.", "url": "https://disease-ontology.org/term/DOID:10316", "evidence": [ { "id": "10316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10316" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10772", "name": "thrombotic thrombocytopenic purpura", "description": "", "url": "https://disease-ontology.org/term/DOID:10772", "evidence": [ { "id": "10772", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10772" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11165", "name": "common wart", "description": "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body.", "url": "https://disease-ontology.org/term/DOID:11165", "evidence": [ { "id": "11165", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11165" } ], "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:11336", "name": "rhinoscleroma", "description": "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis.", "url": "https://disease-ontology.org/term/DOID:11336", "evidence": [ { "id": "11336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11336" } ], "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: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:11656", "name": "cicatricial pemphigoid", "description": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.", "url": "https://disease-ontology.org/term/DOID:11656", "evidence": [ { "id": "11656", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11656" } ], "weight": 0.0 }, { "disease_id": "DOID:11829", "name": "degenerative myopia", "description": "", "url": "https://disease-ontology.org/term/DOID:11829", "evidence": [ { "id": "11829", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11829" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "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:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:12859", "name": "choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.", "url": "https://disease-ontology.org/term/DOID:12859", "evidence": [ { "id": "12859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ], "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:12987", "name": "agranulocytosis", "description": "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm of blood.", "url": "https://disease-ontology.org/term/DOID:12987", "evidence": [ { "id": "12987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12987" } ], "weight": 0.0 }, { "disease_id": "DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "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:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "weight": 0.0 }, { "disease_id": "DOID:1340", "name": "pure red-cell aplasia", "description": "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.", "url": "https://disease-ontology.org/term/DOID:1340", "evidence": [ { "id": "1340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1340" } ], "weight": 0.0 }, { "disease_id": "DOID:13774", "name": "Addison's disease", "description": "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:13774", "evidence": [ { "id": "13774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13774" } ], "weight": 0.0 }, { "disease_id": "DOID:14040", "name": "autoimmune polyendocrine syndrome", "description": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:14040", "evidence": [ { "id": "14040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14040" } ], "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: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:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "weight": 0.0 }, { "disease_id": "DOID:1586", "name": "rheumatic fever", "description": "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:1586", "evidence": [ { "id": "1586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1586" } ], "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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:216", "name": "dental caries", "description": "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooths surface, or enamel.", "url": "https://disease-ontology.org/term/DOID:216", "evidence": [ { "id": "216", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:216" } ], "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: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: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:2696", "name": "Leydig cell tumor", "description": "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle.", "url": "https://disease-ontology.org/term/DOID:2696", "evidence": [ { "id": "2696", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2696" } ], "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: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: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: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:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:401", "name": "multidrug-resistant tuberculosis", "description": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.", "url": "https://disease-ontology.org/term/DOID:401", "evidence": [ { "id": "401", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:401" } ], "weight": 0.0 }, { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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: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: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: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: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:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "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: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:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "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:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8929", "name": "atrophic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8929", "evidence": [ { "id": "8929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "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: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:9383", "name": "iridocyclitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9383", "evidence": [ { "id": "9383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9383" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 }, { "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 to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "pmid": "" } ], "biological_process": [ { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class II protein complex", "id": "GO:0002503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002503", "evidence": [ { "database": "UniProtKB", "id": "P06341", "url": "https://www.uniprot.org/uniprotkb/P06341" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", 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Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050117", "name": "disease by infectious agent", "description": "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.", "url": "https://disease-ontology.org/term/DOID:0050117", "evidence": [ { "id": "0050117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050117" } ], "weight": 0.0 }, { "disease_id": "DOID:0050144", "name": "Kartagener syndrome", "description": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.", "url": "https://disease-ontology.org/term/DOID:0050144", "evidence": [ { "id": "0050144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050144" } ], "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:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 }, { "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. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10457", "name": "Legionnaires' disease", "description": "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.", "url": "https://disease-ontology.org/term/DOID:10457", "evidence": [ { "id": "10457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10457" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "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: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:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12375", "name": "bronchopneumonia", "description": "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.", "url": "https://disease-ontology.org/term/DOID:12375", "evidence": [ { "id": "12375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12375" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "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:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "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:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13450", "name": "coccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.", "url": "https://disease-ontology.org/term/DOID:13450", "evidence": [ { "id": "13450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13450" } ], "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: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:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1733", "name": "cryptosporidiosis", "description": "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.", "url": "https://disease-ontology.org/term/DOID:1733", "evidence": [ { "id": "1733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1733" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2272", "name": "vulvovaginal candidiasis", "description": "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.", "url": "https://disease-ontology.org/term/DOID:2272", "evidence": [ { "id": "2272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2272" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3385", "name": "bacterial vaginosis", "description": "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.", "url": "https://disease-ontology.org/term/DOID:3385", "evidence": [ { "id": "3385", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3385" } ], "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: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: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: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: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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:57", "name": "aortic valve insufficiency", "description": "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.", "url": "https://disease-ontology.org/term/DOID:57", "evidence": [ { "id": "57", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:57" } ], "weight": 0.0 }, { "disease_id": "DOID:594", "name": "panic disorder", "description": "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.", "url": "https://disease-ontology.org/term/DOID:594", "evidence": [ { "id": "594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:594" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID: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:853", "name": "polymyalgia rheumatica", "description": "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.", "url": "https://disease-ontology.org/term/DOID:853", "evidence": [ { "id": "853", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:853" } ], "weight": 0.0 }, { "disease_id": "DOID:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "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": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "galactose binding", "id": "GO:0005534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005534", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "serine-type endopeptidase complex", "id": "GO:1905370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905370", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": 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"P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "killing by host of symbiont cells", "id": "GO:0051873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051873", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "positive regulation of complement activation", "id": "GO:0045917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045917", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "positive regulation of opsonization", "id": "GO:1903028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903028", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "P08661", "url": "https://www.uniprot.org/uniprotkb/P08661" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P08661-1" }, { "uniprot_canonical_ac": "P09011-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 263, "chemical_mass": 28209.0, "gene_names": "Mip;Aqp0;Mip", "protein_name": "Lens fiber major intrinsic protein", "disease": [ { "disease_id": "DOID:0110251", "name": "cataract 15 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.", "url": "https://disease-ontology.org/term/DOID:0110251", "evidence": [ { "id": "0110251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110251" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 } ], "biological_process": [ { "name": "homotypic cell-cell adhesion", "id": "GO:0034109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034109", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "canalicular bile acid transport", "id": "GO:0015722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015722", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "water transport", "id": "GO:0006833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006833", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "maintenance of lens transparency", "id": "GO:0036438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036438", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "gap junction-mediated intercellular transport", "id": "GO:1990349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990349", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "water channel activity", "id": "GO:0015250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015250", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "cell adhesion mediator activity", "id": "GO:0098631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098631", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": 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"end_pos": "235", "site_lbl": "Ser235", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" }, { "database": "PubMed", "id": "10067969", "url": "https://glygen.org/publication/PubMed/10067969" } ] } ] }, { "uniprot_canonical_ac": "P09011-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Ser243", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ] } ] }, { "uniprot_canonical_ac": "P09011-1", "start_pos": "245", "end_pos": "245", "site_lbl": "Ser245", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" } ] } ] }, { "uniprot_canonical_ac": "P09011-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asn246", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "No effects.", "evidence": [ { "database": "UniProtKB", "id": "P09011", "url": "https://www.uniprot.org/uniprotkb/P09011" }, { "database": "PubMed", "id": "7848273", "url": "https://glygen.org/publication/PubMed/7848273" } ] } ] } ], "record_id": "P09011-1" }, { "uniprot_canonical_ac": "P09416-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 453, "chemical_mass": 50561.0, "gene_names": "Myc;Myc;RNCMYC;c-myc;mMyc", "protein_name": "Myc proto-oncogene protein", "disease": [ { "disease_id": "DOID:0001816", "name": "angiosarcoma", "description": "A vascular cancer that 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} ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": 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"https://disease-ontology.org/term/DOID:13543", "evidence": [ { "id": "13543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13543" } ], "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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in 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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: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: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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "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: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:5394", "name": "prolactinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5394", "evidence": [ { "id": "5394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5394" } ], "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:8584", "name": "Burkitt lymphoma", "description": "A mature B-cell neoplasm of B-cells found in the germinal center.", "url": "https://disease-ontology.org/term/DOID:8584", "evidence": [ { "id": "8584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8584" } ], "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: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 to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to alkaloid", "id": "GO:0043279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043279", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to cycloheximide", "id": "GO:0071409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071409", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to endothelin", "id": "GO:1990859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990859", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of telomere maintenance", "id": "GO:0032204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032204", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to interferon-alpha", "id": "GO:0035457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035457", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to growth hormone stimulus", "id": "GO:0071378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071378", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of sound", "id": "GO:0050910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050910", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to testosterone stimulus", "id": "GO:0071394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071394", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of catalytic activity", "id": "GO:0043085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043085", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "transcription by RNA polymerase II", "id": "GO:0006366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006366", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of oxidative phosphorylation", "id": "GO:0002082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002082", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to estrogen stimulus", "id": "GO:0071391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071391", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "B cell apoptotic process", "id": "GO:0001783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001783", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of B cell apoptotic process", "id": "GO:0002904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002904", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "hypothalamus development", "id": "GO:0021854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021854", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of cell division", "id": "GO:0051782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051782", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of monocyte differentiation", "id": "GO:0045656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045656", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA-templated transcription initiation", "id": "GO:0006352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006352", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "response to human chorionic gonadotropin", "id": "GO:0044752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044752", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of oxidative phosphorylation", "id": "GO:1903862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903862", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "protein-DNA complex disassembly", "id": "GO:0032986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032986", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of metanephric cap mesenchymal cell proliferation", "id": "GO:0090096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090096", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to hydrostatic pressure", "id": "GO:0071464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071464", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of cellular respiration", "id": "GO:1901857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901857", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "G0 to G1 transition", "id": "GO:0045023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045023", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to phorbol 13-acetate 12-myristate", "id": "GO:1904628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904628", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "rRNA metabolic process", "id": "GO:0016072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016072", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "re-entry into mitotic cell cycle", "id": "GO:0000320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000320", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "chromosome organization", "id": "GO:0051276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051276", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to carbohydrate stimulus", "id": "GO:0071322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071322", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902255", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to prolactin", "id": "GO:1990646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990646", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of transcription initiation by RNA polymerase II", "id": "GO:0060633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060633", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of stress-activated MAPK cascade", "id": "GO:0032873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032873", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "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": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "NK T cell proliferation", "id": "GO:0001866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001866", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "inner mitochondrial membrane organization", "id": "GO:0007007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007007", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "pyruvate transport", "id": "GO:0006848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006848", "evidence": [ { "database": 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"id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "cellular response to putrescine", "id": "GO:1904586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904586", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "regulation of somatic stem cell population maintenance", "id": "GO:1904672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904672", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" } ], "molecular_function": [ { "name": "eukaryotic initiation factor eIF2 binding", "id": "GO:0071074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071074", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": "https://www.uniprot.org/uniprotkb/P09416" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P09416", "url": 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"glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 264, "chemical_mass": 29876.0, "gene_names": "RT1-Db1", "protein_name": "Rano class II histocompatibility antigen, D-1 beta chain", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050168", "name": "autoimmune polyendocrine syndrome type 2", "description": "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene.", "url": "https://disease-ontology.org/term/DOID:0050168", "evidence": [ { "id": "0050168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050168" } ], "weight": 0.0 }, { "disease_id": "DOID:0050784", "name": "primary progressive multiple sclerosis", "description": "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.", "url": "https://disease-ontology.org/term/DOID:0050784", "evidence": [ { "id": "0050784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050784" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060532", "name": "latex allergy", "description": "An allergic disease that is triggered by latex.", "url": "https://disease-ontology.org/term/DOID:0060532", "evidence": [ { "id": "0060532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060532" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080822", "name": "aspirin-induced respiratory disease", "description": "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs.", "url": "https://disease-ontology.org/term/DOID:0080822", "evidence": [ { "id": "0080822", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "weight": 0.0 }, { "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 }, { "disease_id": "DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "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:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10983", "name": "Alport syndrome", "description": "A syndrome disease that is characterized by glomerulonephritis, end-stage kidney disease, and hearing loss.", "url": "https://disease-ontology.org/term/DOID:10983", "evidence": [ { "id": "10983", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10983" } ], "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:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "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:11656", "name": "cicatricial pemphigoid", "description": "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin.", "url": "https://disease-ontology.org/term/DOID:11656", "evidence": [ { "id": "11656", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11656" } ], "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:12029", "name": "sympathetic ophthalmia", "description": "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia.", "url": "https://disease-ontology.org/term/DOID:12029", "evidence": [ { "id": "12029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12029" } ], "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:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12148", "name": "alveolar echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain.", "url": "https://disease-ontology.org/term/DOID:12148", "evidence": [ { "id": "12148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12148" } ], "weight": 0.0 }, { "disease_id": "DOID:12297", "name": "Vogt-Koyanagi-Harada disease", "description": "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis.", "url": "https://disease-ontology.org/term/DOID:12297", "evidence": [ { "id": "12297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12297" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:12662", "name": "paracoccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis.", "url": "https://disease-ontology.org/term/DOID:12662", "evidence": [ { "id": "12662", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12662" } ], "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:12859", "name": "choreatic disease", "description": "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next.", "url": "https://disease-ontology.org/term/DOID:12859", "evidence": [ { "id": "12859", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12859" } ], "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:12918", "name": "thromboangiitis obliterans", "description": "", "url": "https://disease-ontology.org/term/DOID:12918", "evidence": [ { "id": "12918", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12918" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "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:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "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:1340", "name": "pure red-cell aplasia", "description": "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.", "url": "https://disease-ontology.org/term/DOID:1340", "evidence": [ { "id": "1340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1340" } ], "weight": 0.0 }, { "disease_id": "DOID:13404", "name": "uveoparotid fever", "description": "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve.", "url": "https://disease-ontology.org/term/DOID:13404", "evidence": [ { "id": "13404", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13404" } ], "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:13774", "name": "Addison's disease", "description": "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:13774", "evidence": [ { "id": "13774", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13774" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID:1395", "name": "schistosomiasis", "description": "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria.", "url": "https://disease-ontology.org/term/DOID:1395", "evidence": [ { "id": "1395", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1395" } ], "weight": 0.0 }, { "disease_id": "DOID:14040", "name": "autoimmune polyendocrine syndrome", "description": "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:14040", "evidence": [ { "id": "14040", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14040" } ], "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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1495", "name": "cystic echinococcosis", "description": "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.", "url": "https://disease-ontology.org/term/DOID:1495", "evidence": [ { "id": "1495", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1495" } ], "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:1586", "name": "rheumatic fever", "description": "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:1586", "evidence": [ { "id": "1586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1586" } ], "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:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected 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:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2988", "name": "antiphospholipid syndrome", "description": "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).", "url": "https://disease-ontology.org/term/DOID:2988", "evidence": [ { "id": "2988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2988" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:401", "name": "multidrug-resistant tuberculosis", "description": "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.", "url": "https://disease-ontology.org/term/DOID:401", "evidence": [ { "id": "401", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:401" } ], "weight": 0.0 }, { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "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: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:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:8929", "name": "atrophic gastritis", "description": "", "url": "https://disease-ontology.org/term/DOID:8929", "evidence": [ { "id": "8929", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8929" } ], "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:8986", "name": "narcolepsy", "description": "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.", "url": "https://disease-ontology.org/term/DOID:8986", "evidence": [ { "id": "8986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8986" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "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: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:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "polysaccharide binding", "id": "GO:0030247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030247", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "MHC class II protein complex binding", "id": "GO:0023026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023026", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "CD4 receptor binding", "id": "GO:0042609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042609", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "T cell receptor binding", "id": "GO:0042608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042608", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of T cell mediated immune response to tumor cell", "id": "GO:0002842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002842", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation", "id": "GO:0032831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032831", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "regulation of T-helper cell differentiation", "id": "GO:0045622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045622", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "inflammatory response to antigenic stimulus", "id": "GO:0002437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002437", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "antigen processing and presentation of exogenous peptide antigen via MHC class II", "id": "GO:0019886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019886", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "regulation of interleukin-4 production", "id": "GO:0032673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032673", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "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": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "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": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "T-helper 1 type immune response", "id": "GO:0042088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042088", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "peptide antigen assembly with MHC class II protein complex", "id": "GO:0002503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002503", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to antigenic stimulus", "id": "GO:0002862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002862", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of monocyte differentiation", "id": "GO:0045657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045657", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of T cell activation", "id": "GO:0050870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050870", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of immune response", "id": "GO:0050778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050778", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of CD4-positive, alpha-beta T cell activation", "id": "GO:2000516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000516", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "positive regulation of memory T cell differentiation", "id": "GO:0043382", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043382", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "regulation of interleukin-10 production", "id": "GO:0032653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032653", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "myeloid dendritic cell antigen processing and presentation", "id": "GO:0002469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002469", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class II", "id": "GO:0002491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002491", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "antigen processing and presentation of peptide or polysaccharide antigen via MHC class II", "id": "GO:0002504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002504", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "MHC class II protein complex", "id": "GO:0042613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042613", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P18211", "url": "https://www.uniprot.org/uniprotkb/P18211" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P18211-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Asn46", "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": 46, "start_aa": "Asn", "end_pos": 46, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn46", "evidence": [ { "id": "P18211", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18211#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P18211-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Asp7", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (DSC->NSC).", "chr_id": "20", "chr_pos": "4560080", "evidence": [ { "id": "rs3323507117", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3323507117" } ] } ] } ], "record_id": "P18211-1" }, { "uniprot_canonical_ac": "P18589-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 659, "chemical_mass": 75074.0, "gene_names": "Mx2", "protein_name": "Interferon-induced GTP-binding protein Mx2", "disease": [ { "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: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: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: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:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to type I interferon", "id": "GO:0071357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071357", "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "pmid": "" }, { "name": "regulation of nucleocytoplasmic transport", "id": "GO:0046822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046822", "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "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": "P18589", "url": "https://www.uniprot.org/uniprotkb/P18589" } ], "pmid": "" }, { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P43425", "url": "https://www.uniprot.org/uniprotkb/P43425" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "P43425", "url": "https://www.uniprot.org/uniprotkb/P43425" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P43425-1" }, { "uniprot_canonical_ac": "P43429-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 413, "chemical_mass": 42871.0, "gene_names": "Gata1;Eryf1;Gata1", "protein_name": "Erythroid transcription factor", "disease": [ { "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:0051008", "name": "congenital nonspherocytic hemolytic anemia 9", "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in hemizygous or heterozygous mutation in the GATA1 gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0051008", "evidence": [ { "id": "0051008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051008" } ], "weight": 0.0 }, { "disease_id": "DOID:0060888", "name": "transient myeloproliferative syndrome", "description": "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome.", "url": 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"pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "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": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "positive regulation of mast cell degranulation", "id": "GO:0043306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043306", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "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": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "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": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "P43429", "url": "https://www.uniprot.org/uniprotkb/P43429" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", 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of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.", "url": "https://disease-ontology.org/term/DOID:10609", "evidence": [ { "id": "10609", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10609" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:893", "name": "Wilson disease", "description": "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.", "url": "https://disease-ontology.org/term/DOID:893", "evidence": [ { "id": "893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:893" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", 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"" }, { "name": "mesenchymal-epithelial cell signaling", "id": "GO:0060638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060638", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive regulation of cell population 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"blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "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": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "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": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "embryonic camera-type eye 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"https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "Harderian gland development", "id": "GO:0070384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070384", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", 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"protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, 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"neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "P70492", "url": "https://www.uniprot.org/uniprotkb/P70492" } ], 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"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: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: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:4465", "name": "papillary renal cell carcinoma", "description": "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors.", "url": "https://disease-ontology.org/term/DOID:4465", "evidence": [ { "id": "4465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4465" } ], "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: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: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:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": 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"GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-threonine phosphorylation", "id": "GO:0010800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010800", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "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": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-serine phosphorylation", "id": "GO:0033138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033138", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "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": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "regulation of interleukin-6 production", "id": "GO:0032675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032675", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "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": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "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": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "cardiac muscle cell development", "id": "GO:0055013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055013", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "reactive oxygen species metabolic process", "id": "GO:0072593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072593", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "response to acidic pH", "id": "GO:0010447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010447", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive chemotaxis", "id": "GO:0050918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050918", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-threonine phosphorylation", "id": "GO:0010801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010801", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "regulation of cellular response to oxidative stress", "id": "GO:1900407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900407", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "central nervous system neuron differentiation", "id": "GO:0021953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021953", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": "hepatocyte growth factor receptor signaling pathway", "id": "GO:0048012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048012", "evidence": [ { "database": "UniProtKB", "id": "P97523", "url": "https://www.uniprot.org/uniprotkb/P97523" } ], "pmid": "" }, { "name": 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"name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", 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"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:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": 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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: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: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: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: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:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "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: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: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "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: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: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: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: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: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: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: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: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:574", "name": "peripheral nervous system disease", "description": "A nervous system disease that affects the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:574", "evidence": [ { "id": "574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:574" } ], "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:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID: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:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8567", "name": "Hodgkin's lymphoma", "description": "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.", "url": "https://disease-ontology.org/term/DOID:8567", "evidence": [ { "id": "8567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8567" } ], "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:8618", "name": "oral cavity cancer", "description": "A gastrointestinal system cancer that is located_in the oral cavity.", "url": "https://disease-ontology.org/term/DOID:8618", "evidence": [ { "id": "8618", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8618" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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": "glutathione transferase activity", "id": "GO:0004364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004364", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" }, { "name": "glutathione peroxidase activity", "id": "GO:0004602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004602", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" }, { "name": "alkylhalidase activity", "id": "GO:0047651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047651", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" } ], "biological_process": [ { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "Q01579", "url": "https://www.uniprot.org/uniprotkb/Q01579" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": 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"id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "positive regulation of hormone secretion", "id": "GO:0046887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046887", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "regulation of intracellular steroid hormone receptor signaling pathway", "id": "GO:0033143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033143", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0046010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046010", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "somatotropin secreting cell development", "id": "GO:0060133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060133", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043567", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "cAMP/PKA signal transduction", "id": "GO:0141156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141156", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": 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"name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "nuclear matrix", "id": "GO:0016363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016363", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "nuclear inner membrane", "id": "GO:0005637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005637", "evidence": [ { "database": "UniProtKB", "id": "Q02644", "url": "https://www.uniprot.org/uniprotkb/Q02644" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": 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"disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q4KM95", "url": "https://www.uniprot.org/uniprotkb/Q4KM95" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q4KM95-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Ser399", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q4KM95", "url": "https://www.uniprot.org/uniprotkb/Q4KM95" } ] } ] } ], "record_id": "Q4KM95-1" }, { "uniprot_canonical_ac": "Q4QQW4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 482, 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"name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": 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{ "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "hair follicle placode formation", "id": "GO:0060789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060789", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "response to hyperoxia", "id": "GO:0055093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055093", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 production", "id": "GO:0032732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032732", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-lysine acetylation", "id": "GO:2000757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000757", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "DNA methylation-dependent constitutive heterochromatin formation", "id": "GO:0006346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006346", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "positive regulation of type B pancreatic cell apoptotic process", "id": "GO:2000676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000676", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "fungiform papilla formation", "id": "GO:0061198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061198", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" } ], "molecular_function": [ { "name": "Krueppel-associated box domain binding", "id": "GO:0035851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035851", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "RNA polymerase II core promoter sequence-specific DNA binding", "id": "GO:0000979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000979", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "core promoter sequence-specific DNA binding", "id": "GO:0001046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001046", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "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": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "histone decrotonylase activity", "id": "GO:0160009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160009", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "protein lysine delactylase activity", "id": "GO:0160216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160216", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "histone deacetylase activity, hydrolytic mechanism", "id": "GO:0141221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141221", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "transcription repressor complex", "id": "GO:0017053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017053", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q4QQW4", "url": "https://www.uniprot.org/uniprotkb/Q4QQW4" } ], "pmid": "" }, { "name": "Sin3-type complex", "id": "GO:0070822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070822", 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"url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "riboflavin transmembrane transporter activity", "id": "GO:0032217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032217", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "amide transmembrane transporter activity", "id": "GO:0042887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042887", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "symbiont-containing vacuole membrane", "id": "GO:0020005", "url": 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"name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JTZ9", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JTZ9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JTZ9-1" }, { "uniprot_canonical_ac": "A0A0G2K2T2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2T2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2T2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 601, "chemical_mass": 67388.0, "gene_names": "Miga1;Miga1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2T2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2T2" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2T2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2T2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2T2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2T2" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrial fusion", "id": "GO:0008053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008053", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2T2", "url": 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[10116]" } ], "length": 1151, "chemical_mass": 124109.0, "gene_names": "Cd163;Cd163;ED2", "protein_name": "Scavenger receptor cysteine-rich type 1 protein M130", "disease": [ { "disease_id": "DOID:0050120", "name": "hemophagocytic lymphohistiocytosis", "description": "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.", "url": "https://disease-ontology.org/term/DOID:0050120", "evidence": [ { "id": "0050120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050120" } ], "weight": 0.0 }, { "disease_id": "DOID:0050523", "name": "adult T-cell leukemia/lymphoma", "description": "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. 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: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: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:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:11077", "name": "brucellosis", "description": "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.", "url": "https://disease-ontology.org/term/DOID:11077", "evidence": [ { "id": "11077", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11077" } ], "weight": 0.0 }, { "disease_id": "DOID:11266", "name": "Hantavirus hemorrhagic fever with renal syndrome", "description": "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, Orthohantavirus hantanense, Orthohantavirus puumalaense, or Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure.", "url": "https://disease-ontology.org/term/DOID:11266", "evidence": [ { "id": "11266", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11266" } ], "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: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:13254", "name": "diverticulitis of colon", "description": "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall.", "url": "https://disease-ontology.org/term/DOID:13254", "evidence": [ { "id": "13254", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13254" } ], "weight": 0.0 }, { "disease_id": "DOID:2280", "name": "hidradenitis suppurativa", "description": "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation.", "url": "https://disease-ontology.org/term/DOID:2280", "evidence": [ { "id": "2280", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2280" } ], "weight": 0.0 }, { "disease_id": "DOID:2913", "name": "acute pancreatitis", "description": "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock.", "url": "https://disease-ontology.org/term/DOID:2913", "evidence": [ { "id": "2913", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2913" } ], "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:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "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:4325", "name": "Ebola virus disease", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Bundibugyo virus (Orthoebolavirus bundibugyoense), Sudan ebolavirus (Orthoebolavirus sudanense), Tai Forest ebolavirus (Orthoebolavirus taiense), or Zaire ebolavirus (Orthoebolavirus zairense), which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.", "url": "https://disease-ontology.org/term/DOID:4325", "evidence": [ { "id": "4325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4325" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:8476", "name": "Whipple disease", "description": "", "url": "https://disease-ontology.org/term/DOID:8476", "evidence": [ { "id": "8476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8476" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "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: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:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 }, { "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" } ], "biological_process": [ { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JVY2", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JVY2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A0G2JVY2-1", "start_pos": "880", "end_pos": "880", "site_lbl": "Thr880", "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": 880, "start_aa": "Thr", "end_pos": 880, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr880", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "A0A0G2JVY2-1" }, { "uniprot_canonical_ac": "A0A0G2K6E3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1018, "chemical_mass": 116698.0, "gene_names": "Myo1g;Myo1g", "protein_name": "", "disease": [], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "cytoskeletal motor activity", "id": "GO:0003774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" } ], "cellular_component": [ { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "myosin complex", "id": "GO:0016459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "leading edge membrane", "id": "GO:0031256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031256", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "actin filament-based movement", "id": "GO:0030048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030048", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "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": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "cell-substrate adhesion", "id": "GO:0031589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031589", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "T cell mediated immunity", "id": "GO:0002456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002456", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "cell gliding", "id": "GO:0071976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071976", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K6E3", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K6E3" } ], "pmid": "" }, { "name": "T cell meandering migration", "id": "GO:0120117", "url": 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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 } ], "cellular_component": [ { "name": "mucus layer", "id": "GO:0070701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070701", "evidence": [ { "database": "UniProtKB", "id": "Q62635", "url": "https://www.uniprot.org/uniprotkb/Q62635" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62635", "url": "https://www.uniprot.org/uniprotkb/Q62635" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q62635", "url": 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"name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "Q8R431", "url": "https://www.uniprot.org/uniprotkb/Q8R431" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "Q8R431", "url": "https://www.uniprot.org/uniprotkb/Q8R431" } ], "pmid": "" } ], "cellular_component": [ { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "Q8R431", "url": "https://www.uniprot.org/uniprotkb/Q8R431" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R431", "url": "https://www.uniprot.org/uniprotkb/Q8R431" } ], "pmid": "" }, { "name": "membrane", "id": 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and more severely than distal arm.", "url": "https://disease-ontology.org/term/DOID:0060253", "evidence": [ { "id": "0060253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060253" } ], "weight": 0.0 }, { "disease_id": "DOID:0070251", "name": "X-linked Emery-Dreifuss muscular dystrophy 6", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3.", "url": "https://disease-ontology.org/term/DOID:0070251", "evidence": [ { "id": "0070251", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070251" } ], "weight": 0.0 }, { "disease_id": "DOID:0080090", "name": "reducing body myopathy 1A", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood 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characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3.", "url": "https://disease-ontology.org/term/DOID:0112148", "evidence": [ { "id": "0112148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112148" } ], "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: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"url": "https://www.uniprot.org/uniprotkb/Q9WUH4" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WUH4", "url": "https://www.uniprot.org/uniprotkb/Q9WUH4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUH4", "url": "https://www.uniprot.org/uniprotkb/Q9WUH4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9WUH4", "url": "https://www.uniprot.org/uniprotkb/Q9WUH4" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q9WUH4", "url": 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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 } ], "biological_process": [ { "name": "granuloma formation", "id": "GO:0002432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002432", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "reactive oxygen species biosynthetic process", "id": "GO:1903409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903409", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": 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"name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "phospholipid efflux", "id": "GO:0033700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033700", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "inflammatory response to antigenic stimulus", "id": "GO:0002437", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002437", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "leukotriene metabolic process", "id": "GO:0006691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006691", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "leukotriene biosynthetic process", "id": "GO:0019370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019370", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "glucocorticoid metabolic process", "id": "GO:0008211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008211", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "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": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "response to fluid shear stress", "id": "GO:0034405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034405", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "lymphocyte migration", "id": "GO:0072676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072676", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "endothelium development", "id": "GO:0003158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003158", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "long-chain fatty acid import across plasma membrane", "id": "GO:0015911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015911", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "macrophage activation", "id": "GO:0042116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042116", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "endothelial cell apoptotic process", "id": "GO:0072577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072577", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "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": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "glutathione transmembrane transport", "id": "GO:0034775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034775", 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"Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "superoxide anion generation", "id": "GO:0042554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042554", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "glutathione metabolic process", "id": "GO:0006749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006749", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "amygdala development", "id": "GO:0021764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021764", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "regulation of cellular response to drug", "id": "GO:2001038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001038", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "leukotriene transport", "id": "GO:0071716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071716", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "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": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "intracellular chemical homeostasis", "id": "GO:0055082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055082", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "bilirubin transport", "id": "GO:0015723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015723", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "carboxylic acid transmembrane transport", "id": "GO:1905039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905039", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "neural tissue regeneration", "id": "GO:0097719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097719", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "cyclic nucleotide transport", "id": "GO:0070729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070729", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "export from cell", "id": "GO:0140352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140352", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "pigment accumulation", "id": "GO:0043476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043476", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "antigen processing and presentation of lipid antigen via MHC class Ib", "id": "GO:0048003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048003", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "intracellular nitrogen homeostasis", "id": "GO:0141067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141067", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "lipid transport", "id": "GO:0006869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006869", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "monocarboxylic acid transport", "id": "GO:0015718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015718", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" } ], "molecular_function": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "Q8CG09", "url": "https://www.uniprot.org/uniprotkb/Q8CG09" } ], "pmid": "" }, { "name": "long-chain fatty acid transmembrane transporter activity", "id": "GO:0005324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005324", "evidence": [ { 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"disease": [ { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:0110519", "name": "autosomal recessive nonsyndromic deafness 68", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110519", "evidence": [ { "id": "0110519", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110519" } ], "weight": 0.0 }, { "disease_id": "DOID:0111252", "name": "vestibular schwannomatosis", "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, 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Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2.", "url": "https://disease-ontology.org/term/DOID:0111252", "evidence": [ { "id": "0111252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111252" } ], "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:12270", "name": "coloboma", "description": "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ], "weight": 0.0 }, { "disease_id": "DOID:12689", "name": "acoustic neuroma", "description": "", "url": "https://disease-ontology.org/term/DOID:12689", "evidence": [ { "id": "12689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12689" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID:3565", "name": "meningioma", "description": "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.", "url": "https://disease-ontology.org/term/DOID:3565", "evidence": [ { "id": "3565", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3565" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small 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"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:7474", "name": "malignant pleural mesothelioma", "description": "A pleural cancer that has_material_basis_in mesothelium cells.", "url": "https://disease-ontology.org/term/DOID:7474", "evidence": [ { "id": "7474", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7474" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", 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"id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "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": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "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": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": 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"Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "regulation of stem cell proliferation", "id": "GO:0072091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072091", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "negative regulation of cell growth involved in contact inhibition", "id": "GO:0060243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060243", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "Schwann cell proliferation", "id": "GO:0014010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014010", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "regulation of gliogenesis", "id": "GO:0014013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014013", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "cell-cell junction organization", "id": "GO:0045216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045216", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "positive regulation of early endosome to late endosome transport", "id": "GO:2000643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000643", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "lens fiber cell differentiation", "id": "GO:0070306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070306", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "regulation of neural precursor cell proliferation", "id": "GO:2000177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000177", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "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": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q63648", "url": "https://www.uniprot.org/uniprotkb/Q63648" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": 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The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5363", "name": "myxoid liposarcoma", "description": "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations.", "url": "https://disease-ontology.org/term/DOID:5363", "evidence": [ { "id": "5363", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5363" } ], "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:9870", "name": "galactosemia", "description": "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.", "url": "https://disease-ontology.org/term/DOID:9870", "evidence": [ { "id": "9870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9870" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "CHOP-C/EBP complex", "id": "GO:0036488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036488", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "CHOP-ATF3 complex", "id": "GO:1990622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990622", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "CHOP-ATF4 complex", "id": "GO:1990617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990617", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of interleukin-17 production", "id": "GO:0032700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032700", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "blood vessel maturation", "id": "GO:0001955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001955", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902237", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "negative regulation of fat cell differentiation", "id": "GO:0045599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045599", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "id": "GO:0070059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070059", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "establishment of protein localization to mitochondrion", "id": "GO:0072655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072655", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "ER overload response", "id": "GO:0006983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006983", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "luteolysis", "id": "GO:0001554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001554", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to kainic acid", "id": "GO:1904373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904373", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "response to unfolded protein", "id": "GO:0006986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006986", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "anterior/posterior axis specification", "id": "GO:0009948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009948", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "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": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to nitrosative stress", "id": "GO:1990442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990442", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "negative regulation of determination of dorsal identity", "id": "GO:2000016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000016", "evidence": [ { "database": "UniProtKB", "id": "Q62857", "url": "https://www.uniprot.org/uniprotkb/Q62857" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": 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"name": "side of membrane", "id": "GO:0098552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098552", "evidence": [ { "database": "UniProtKB", "id": "Q66H42", "url": "https://www.uniprot.org/uniprotkb/Q66H42" } ], "pmid": "" } ], "biological_process": [ { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q66H42", "url": "https://www.uniprot.org/uniprotkb/Q66H42" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "Q66H42", "url": "https://www.uniprot.org/uniprotkb/Q66H42" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "Q66H42", "url": "https://www.uniprot.org/uniprotkb/Q66H42" } ], "pmid": "" }, { 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"weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q66HH3", "url": "https://www.uniprot.org/uniprotkb/Q66HH3" } ] } ] } ], "record_id": "Q66HH3-1" }, { "uniprot_canonical_ac": "Q68FP1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q68FP1", "url": "https://www.uniprot.org/uniprotkb/Q68FP1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 780, "chemical_mass": 86068.0, "gene_names": "Gsn;Gsn", "protein_name": "Gelsolin", "disease": [ { "disease_id": "DOID:0050637", "name": "Finnish type amyloidosis", "description": "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial 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"protein_name": "Glucoside xylosyltransferase 1", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6GX83", "url": "https://www.uniprot.org/uniprotkb/Q6GX83" } ], "pmid": "" } ], "biological_process": [ { "name": "protein O-linked glycosylation via N-acetyl-galactosamine", "id": "GO:0016266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016266", "evidence": [ { "database": "UniProtKB", "id": "Q6GX83", "url": "https://www.uniprot.org/uniprotkb/Q6GX83" } ], "pmid": "" }, { "name": "protein O-linked glycosylation via glucose", "id": "GO:0180059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180059", "evidence": [ { "database": "UniProtKB", "id": "Q6GX83", "url": "https://www.uniprot.org/uniprotkb/Q6GX83" } ], "pmid": "" } ], "molecular_function": [ { "name": "UDP-xylosyltransferase activity", "id": "GO:0035252", "url": 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"site_lbl": "Asn168", "evidence": [ { "id": "Q6GX83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6GX83#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6GX83-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Asn232", "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": 232, "start_aa": "Asn", "end_pos": 232, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn232", "evidence": [ { "id": "Q6GX83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6GX83#ptm_processing" } ] } ] } ], "record_id": "Q6GX83-1" }, { "uniprot_canonical_ac": "Q6IFV1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6IFV1", "url": 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fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2.", "url": "https://disease-ontology.org/term/DOID:0111528", "evidence": [ { "id": "0111528", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111528" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": 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Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0050976", "evidence": [ { "id": "0050976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050976" } ], "weight": 0.0 }, { "disease_id": "DOID:0061137", "name": "spinocerebellar ataxia 27B", "description": "An autosomal dominant cerebellar ataxia that is characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties) and has_material_basis_in heterozygous GAA(n) trinucleotide repeat expansion in the FGF14 gene on chromosome 13q33.", "url": "https://disease-ontology.org/term/DOID:0061137", "evidence": [ { "id": "0061137", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061137" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "sodium channel regulator activity", "id": "GO:0017080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017080", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" } ], "biological_process": [ { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "positive regulation of sodium ion transport", "id": "GO:0010765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010765", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "positive regulation of high voltage-gated calcium channel activity", "id": "GO:1901843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901843", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle recycling", "id": "GO:1903421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903421", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane potential", "id": "GO:0060078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060078", "evidence": [ { "database": "UniProtKB", "id": "Q8R5L7", "url": "https://www.uniprot.org/uniprotkb/Q8R5L7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R5L7-1" }, { "uniprot_canonical_ac": "Q8VI82-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q8VI82", "url": "https://www.uniprot.org/uniprotkb/Q8VI82" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 251, "chemical_mass": 27912.0, "gene_names": "Fgf23;Fgf23;Fgf8b", "protein_name": "Fibroblast growth factor 23", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": 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CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 } ], "biological_process": [ { "name": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "Q8VI82", "url": "https://www.uniprot.org/uniprotkb/Q8VI82" } ], "pmid": "" }, { "name": "vitamin D catabolic process", "id": "GO:0042369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042369", "evidence": [ { "database": "UniProtKB", "id": "Q8VI82", "url": "https://www.uniprot.org/uniprotkb/Q8VI82" } ], "pmid": "" }, { "name": "regulation of phosphate transport", "id": "GO:0010966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010966", "evidence": [ { "database": "UniProtKB", "id": "Q8VI82", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006367", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ4", "url": "https://www.uniprot.org/uniprotkb/Q91XQ4" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ4", "url": "https://www.uniprot.org/uniprotkb/Q91XQ4" } ], "pmid": "" }, { "name": "maintenance of ER location", "id": "GO:0051685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051685", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ4", "url": "https://www.uniprot.org/uniprotkb/Q91XQ4" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II complex binding", "id": "GO:0000993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000993", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ4", "url": "https://www.uniprot.org/uniprotkb/Q91XQ4" } ], "pmid": "" }, { "name": "transcription elongation factor activity", "id": "GO:0003711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003711", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ4", "url": "https://www.uniprot.org/uniprotkb/Q91XQ4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91XQ4-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ser266", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q91XQ4", "url": "https://www.uniprot.org/uniprotkb/Q91XQ4" } ] } ] } ], "record_id": "Q91XQ4-1" }, { "uniprot_canonical_ac": "Q920P0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 244, "chemical_mass": 25720.0, "gene_names": "Dcxr;Dcxr;Glb;glb", "protein_name": "L-xylulose reductase", "disease": [], "biological_process": [ { "name": "xylulose metabolic process", "id": "GO:0005997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005997", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "NADP+ metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "D-xylose metabolic process", "id": "GO:0042732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042732", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "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": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "D-glucuronate catabolic process to D-xylulose 5-phosphate", "id": "GO:0019640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019640", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" } ], "molecular_function": [ { "name": "L-xylulose reductase (NADPH) activity", "id": "GO:0050038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050038", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on CH-OH group of donors", "id": "GO:0016614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016614", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor", "id": "GO:0016655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016655", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "carbonyl reductase (NADPH) activity", "id": "GO:0004090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004090", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Ser136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Gln137", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "M", "comment": "Slightly reduced activity. Loss of activity for sugars; when associated with F-143 and L-146.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Leu143", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Has a minimal effect on interaction with MTT and MTB inhibitors. Slightly reduced activity. Loss of activity for sugars; when associated with M-137 and L-146.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" }, { "database": "PubMed", "id": "15906319", "url": "https://glygen.org/publication/PubMed/15906319" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "146", "end_pos": "146", "site_lbl": "His146", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Slightly reduced activity. Reduces interaction with MTT and MTB inhibitors by about 7-fold. Loss of activity for sugars; when associated with M-137; F-143 and L-146.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" }, { "database": "PubMed", "id": "15906319", "url": "https://glygen.org/publication/PubMed/15906319" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Tyr149", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "153", "end_pos": "153", "site_lbl": "Lys153", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Loss of activity.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "190", "end_pos": "190", "site_lbl": "Asn190", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "V", "comment": "Slightly reduced activity. Loss of activity for sugars; when associated with S-191.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" } ] } ] }, { "uniprot_canonical_ac": "Q920P0-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Trp191", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "F", "comment": "Slightly reduced activity. Has minimal effect on the binding of MTB, but a more pronounced reduction on the binding of MTT.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" }, { "database": "PubMed", "id": "15906319", "url": "https://glygen.org/publication/PubMed/15906319" } ] }, { "sequence_org": "W", "sequence_mut": "S", "comment": "Slightly reduced activity. Has minimal effect on the binding of MTT, but a more pronounced reduction on the binding of MTB. Loss of activity for sugars; when associated with V-190.", "evidence": [ { "database": "UniProtKB", "id": "Q920P0", "url": "https://www.uniprot.org/uniprotkb/Q920P0" }, { "database": "PubMed", "id": "12604240", "url": "https://glygen.org/publication/PubMed/12604240" }, { "database": "PubMed", "id": "15906319", "url": "https://glygen.org/publication/PubMed/15906319" } ] } ] } ], "record_id": "Q920P0-1" }, { "uniprot_canonical_ac": "Q921A2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 637, "chemical_mass": 69149.0, "gene_names": "Slc2a13;Hmit;Slc2a13", "protein_name": "Proton myo-inositol cotransporter", "disease": [], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "myo-inositol:proton symporter activity", "id": "GO:0005366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005366", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "myo-inositol transmembrane transporter activity", "id": "GO:0005365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005365", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "astrocyte end-foot", "id": "GO:0097450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097450", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta formation", "id": "GO:1902004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902004", "evidence": [ { "database": "UniProtKB", "id": "Q921A2", "url": "https://www.uniprot.org/uniprotkb/Q921A2" } ], "pmid": "" }, { "name": 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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: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 } ], "biological_process": [ { "name": "negative regulation of double-strand break repair", "id": "GO:2000780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000780", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic camera-type eye formation", "id": "GO:0060900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060900", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "cell proliferation involved in heart valve development", "id": "GO:2000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000793", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "positive regulation of fatty acid beta-oxidation", "id": "GO:0032000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032000", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "developmental process", "id": "GO:0032502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032502", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "mitral valve morphogenesis", "id": "GO:0003183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003183", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "positive regulation of cell motility", "id": "GO:2000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000147", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "regulation of bone mineralization", "id": "GO:0030500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030500", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": "GO:0035137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035137", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "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": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of peroxisome proliferator activated receptor signaling pathway", "id": "GO:0035359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035359", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle tissue development", "id": "GO:0048642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048642", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription initiation", "id": "GO:2000144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000144", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "negative regulation of striated muscle tissue development", "id": "GO:0045843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045843", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "cranial suture morphogenesis", "id": "GO:0060363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060363", "evidence": [ { "database": "UniProtKB", "id": "Q9EPJ1", "url": "https://www.uniprot.org/uniprotkb/Q9EPJ1" } ], "pmid": "" }, { "name": "cardiac neural crest cell migration involved in outflow tract morphogenesis", "id": "GO:0003253", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "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": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "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": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "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": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "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": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "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": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "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": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": 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"Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "regulation of type B pancreatic cell proliferation", "id": "GO:0061469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061469", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "negative regulation of cell cycle G1/S phase transition", "id": "GO:1902807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902807", "evidence": [ { "database": "UniProtKB", "id": "Q9WVR8", "url": "https://www.uniprot.org/uniprotkb/Q9WVR8" } ], "pmid": "" }, { "name": "type B pancreatic cell differentiation", "id": "GO:0003309", "url": 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"name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 244, "chemical_mass": 27880.0, "gene_names": "Klrc1", "protein_name": "", "disease": [ { "disease_id": "DOID:0050548", "name": "hereditary sensory and autonomic neuropathy", "description": "A neuropathy characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory neurons, and variable autonomic dysfunction that has_material_basis_in an inherited mutation. 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The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:288", "name": "endometriosis of uterus", "description": "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium.", "url": "https://disease-ontology.org/term/DOID:288", "evidence": [ { "id": "288", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:288" } ], "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: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: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: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:4531", "name": "mucoepidermoid carcinoma", "description": "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation.", "url": "https://disease-ontology.org/term/DOID:4531", "evidence": [ { "id": "4531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4531" } ], "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: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8456", "name": "choline deficiency disease", "description": "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition.", "url": "https://disease-ontology.org/term/DOID:8456", "evidence": [ { "id": "8456", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8456" } ], "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: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: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:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.", "url": "https://disease-ontology.org/term/DOID:986", "evidence": [ { "id": "986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:986" } ], "weight": 0.0 } ], "biological_process": [ { "name": "natural killer cell inhibitory signaling pathway", "id": "GO:0002769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002769", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "natural killer cell mediated immunity", "id": "GO:0002228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002228", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045953", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045954", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated cytotoxicity", "id": "GO:0001915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001915", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "stimulatory C-type lectin receptor signaling pathway", "id": "GO:0002223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002223", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "CD8-positive, gamma-delta intraepithelial T cell differentiation", "id": "GO:0002305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002305", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" } ], "molecular_function": [ { "name": "MHC class I protein complex binding", "id": "GO:0023024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023024", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JUX8", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JUX8" } ], "pmid": "" }, { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": 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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: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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3030", "name": "mucinous adenocarcinoma", "description": "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin.", "url": "https://disease-ontology.org/term/DOID:3030", "evidence": [ { "id": "3030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3030" } ], "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: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: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:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "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:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "weight": 0.0 }, { "disease_id": "DOID:8463", "name": "corneal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:8463", "evidence": [ { "id": "8463", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8463" } ], "weight": 0.0 }, { "disease_id": "DOID:9368", "name": "keratoconjunctivitis", "description": "", "url": "https://disease-ontology.org/term/DOID:9368", "evidence": [ { "id": "9368", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9368" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mucus layer", "id": "GO:0070701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070701", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K1Y4", "url": 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"" }, { "name": "focal adhesion assembly", "id": "GO:0048041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048041", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K470", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K470" } ], "pmid": "" }, { "name": "substrate-dependent cell migration", "id": "GO:0006929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006929", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K470", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K470" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K470", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K470" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K470", "url": 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"https://www.uniprot.org/uniprotkb/D3ZHK4" } ], "pmid": "" }, { "name": "autophagy of mitochondrion", "id": "GO:0000422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000422", "evidence": [ { "database": "UniProtKB", "id": "D3ZHK4", "url": "https://www.uniprot.org/uniprotkb/D3ZHK4" } ], "pmid": "" }, { "name": "piecemeal microautophagy of the nucleus", "id": "GO:0034727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034727", "evidence": [ { "database": "UniProtKB", "id": "D3ZHK4", "url": "https://www.uniprot.org/uniprotkb/D3ZHK4" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "D3ZHK4", "url": "https://www.uniprot.org/uniprotkb/D3ZHK4" } ], "pmid": "" }, { "name": "glycophagy", "id": "GO:0061723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061723", "evidence": [ { "database": "UniProtKB", "id": "D3ZHK4", "url": "https://www.uniprot.org/uniprotkb/D3ZHK4" } ], 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{ "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "D3ZD96", "url": "https://www.uniprot.org/uniprotkb/D3ZD96" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "D3ZD96", "url": "https://www.uniprot.org/uniprotkb/D3ZD96" } ], "pmid": "" }, { "name": "cell adhesion mediator activity", "id": "GO:0098631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098631", "evidence": [ { "database": "UniProtKB", "id": "D3ZD96", "url": "https://www.uniprot.org/uniprotkb/D3ZD96" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZD96-1" }, { "uniprot_canonical_ac": "D3ZDJ1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZDJ1", "url": 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"https://www.uniprot.org/uniprotkb/D3ZDJ1" } ], "pmid": "" } ], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "D3ZDJ1", "url": "https://www.uniprot.org/uniprotkb/D3ZDJ1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZDJ1-1" }, { "uniprot_canonical_ac": "D3ZDR5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 841, "chemical_mass": 93878.0, "gene_names": "Prmt9;Prmt10;Prmt9;RGD1306157", "protein_name": "Protein arginine N-methyltransferase 9", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" } ], "biological_process": [ { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-arginine N-methyltransferase activity", "id": "GO:0016274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016274", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" }, { "name": "histone methyltransferase activity", "id": "GO:0042054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042054", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" }, { "name": "protein-arginine omega-N symmetric methyltransferase activity", "id": "GO:0035243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035243", "evidence": [ { "database": "UniProtKB", "id": "D3ZDR5", "url": "https://www.uniprot.org/uniprotkb/D3ZDR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZDR5-1" }, { "uniprot_canonical_ac": "D3ZDS2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 541, "chemical_mass": 59098.0, "gene_names": "Msr1", "protein_name": "", "disease": [ { "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: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:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "low-density lipoprotein particle binding", "id": "GO:0030169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030169", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "cargo receptor activity", "id": "GO:0038024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038024", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" } ], "biological_process": [ { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "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": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "positive regulation of cholesterol storage", "id": "GO:0010886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010886", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "plasma lipoprotein particle clearance", "id": "GO:0034381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034381", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "D3ZDS2", "url": "https://www.uniprot.org/uniprotkb/D3ZDS2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZDS2-1" }, { "uniprot_canonical_ac": "D3ZDW0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZDW0", "url": "https://www.uniprot.org/uniprotkb/D3ZDW0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 857, "chemical_mass": 97927.0, "gene_names": "LOC108348195;LOC108348195", "protein_name": "", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "D3ZDW0", "url": "https://www.uniprot.org/uniprotkb/D3ZDW0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZDW0", "url": "https://www.uniprot.org/uniprotkb/D3ZDW0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZDW0-1" }, { "uniprot_canonical_ac": "D3ZDY4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZDY4", "url": "https://www.uniprot.org/uniprotkb/D3ZDY4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 92, "chemical_mass": 10517.0, "gene_names": "Ccl1;Ccl1", "protein_name": "C-C motif chemokine", "disease": [ { "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:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZG94-1" }, { "uniprot_canonical_ac": "D3ZGB0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZGB0", "url": "https://www.uniprot.org/uniprotkb/D3ZGB0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 438, "chemical_mass": 49725.0, "gene_names": "Usp27x;RGD1564628;Usp27x-ps1;Usp27x", "protein_name": "Ubiquitin carboxyl-terminal hydrolase", "disease": [ { "disease_id": "DOID:0112036", "name": "non-syndromic X-linked intellectual disability 105", "description": "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0112036", "evidence": [ { 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has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome.", "url": "https://disease-ontology.org/term/DOID:0081112", "evidence": [ { "id": "0081112", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081112" } ], "weight": 0.0 }, { "disease_id": "DOID:0110317", "name": "hypertrophic cardiomyopathy 11", "description": "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14.", "url": "https://disease-ontology.org/term/DOID:0110317", "evidence": [ { "id": "0110317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110317" } ], "weight": 0.0 }, { "disease_id": "DOID:0110550", "name": "autosomal dominant nonsyndromic deafness 20", "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.", "url": "https://disease-ontology.org/term/DOID:0110550", "evidence": [ { "id": "0110550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110550" } ], "weight": 0.0 }, { "disease_id": "DOID:10486", "name": "intestinal atresia", "description": "", "url": "https://disease-ontology.org/term/DOID:10486", "evidence": [ { "id": "10486", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10486" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "NuA4 histone acetyltransferase complex", "id": "GO:0035267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035267", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "structural constituent of postsynaptic actin cytoskeleton", "id": "GO:0098973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098973", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "D3ZRN3", "url": "https://www.uniprot.org/uniprotkb/D3ZRN3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZRN3-1" }, { "uniprot_canonical_ac": "D3ZRZ2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZRZ2", "url": "https://www.uniprot.org/uniprotkb/D3ZRZ2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 460, "chemical_mass": 52451.0, "gene_names": "Mmp1b;Mmp1b", "protein_name": "interstitial collagenase", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "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: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: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: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: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:2320", "name": "obstructive lung disease", "description": "A lung disease that is characterized by narrowing of pulmonary airways.", "url": "https://disease-ontology.org/term/DOID:2320", "evidence": [ { "id": "2320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2320" } ], "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: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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:4959", "name": "epidermolysis bullosa dystrophica", "description": "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.", "url": "https://disease-ontology.org/term/DOID:4959", "evidence": [ { "id": "4959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4959" } ], "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: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:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8472", "name": "localized scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:8472", "evidence": [ { "id": "8472", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8472" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9008", "name": "psoriatic arthritis", "description": "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis.", "url": "https://disease-ontology.org/term/DOID:9008", "evidence": [ { "id": "9008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9008" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous 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} ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZVU2", "url": "https://www.uniprot.org/uniprotkb/D3ZVU2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZVU2", "url": "https://www.uniprot.org/uniprotkb/D3ZVU2" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "D3ZVU2", "url": "https://www.uniprot.org/uniprotkb/D3ZVU2" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "D3ZVU2", "url": "https://www.uniprot.org/uniprotkb/D3ZVU2" } 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"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": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "activation of protein kinase activity", "id": "GO:0032147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032147", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "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": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": 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}, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "D3ZYL0", "url": "https://www.uniprot.org/uniprotkb/D3ZYL0" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { 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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: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": "positive regulation of microglial cell migration", "id": "GO:1904141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904141", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell", "id": "GO:0002291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002291", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "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": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of microglial cell activation", "id": "GO:1903980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903980", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of amyloid-beta clearance", "id": "GO:1900223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900223", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of engulfment of apoptotic cell", "id": "GO:1901076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901076", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "phagocytosis, recognition", "id": "GO:0006910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006910", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of antigen processing and presentation of peptide antigen via MHC class II", "id": "GO:0002588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002588", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "cellular response to oxidised low-density lipoprotein particle stimulus", "id": "GO:0140052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140052", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of macrophage colony-stimulating factor signaling pathway", "id": "GO:1902227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902227", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "cellular response to lipid", "id": "GO:0071396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071396", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of NLRP3 inflammasome complex assembly", "id": "GO:1900226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900226", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of C-C chemokine receptor CCR7 signaling pathway", "id": "GO:1903082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903082", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of CD40 signaling pathway", "id": "GO:2000350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000350", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of neuroinflammatory response", "id": "GO:0150079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150079", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of plasma membrane bounded cell projection organization", "id": "GO:0120035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120035", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of primary metabolic process", "id": "GO:0080090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080090", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of synapse pruning", "id": "GO:1905808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905808", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903376", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903376", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of fat cell proliferation", "id": "GO:0070345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070345", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of ATP biosynthetic process", "id": "GO:2001171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001171", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor 2 signaling pathway", "id": "GO:0034136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034136", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of establishment of protein localization", "id": "GO:1904951", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904951", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of cell activation", "id": "GO:0050866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050866", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "phagocytosis, engulfment", "id": "GO:0006911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006911", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of triglyceride storage", "id": "GO:0010891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010891", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "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": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "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": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "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": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of macrophage fusion", "id": "GO:0034241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034241", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to antigenic stimulus", "id": "GO:0002862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002862", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of cholesterol storage", "id": "GO:0010887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010887", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of interleukin-6 production", "id": "GO:0032675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032675", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of TOR signaling", "id": "GO:0032008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "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": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of low-density lipoprotein particle clearance", "id": "GO:1905581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905581", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "apoptotic cell clearance", "id": "GO:0043277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043277", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of TOR signaling", "id": "GO:0032006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032006", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "regulation of resting membrane potential", "id": "GO:0060075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060075", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "D3ZZ89", "url": "https://www.uniprot.org/uniprotkb/D3ZZ89" } ], "pmid": "" }, { "name": "cellular response to lipoteichoic acid", "id": "GO:0071223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071223", "evidence": [ { "database": "UniProtKB", "id": 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"name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "D4A2U2", "url": "https://www.uniprot.org/uniprotkb/D4A2U2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D4A2U2", "url": "https://www.uniprot.org/uniprotkb/D4A2U2" } ], "pmid": "" }, { "name": "nuclear chromosome", "id": "GO:0000228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000228", "evidence": [ { "database": "UniProtKB", "id": "D4A2U2", "url": "https://www.uniprot.org/uniprotkb/D4A2U2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D4A2U2-1", "start_pos": "312", "end_pos": "312", "site_lbl": "Thr312", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A3F2-1" }, { "uniprot_canonical_ac": "D4A3H5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A3H5", "url": "https://www.uniprot.org/uniprotkb/D4A3H5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 853, "chemical_mass": 95203.0, "gene_names": "Clcn6", "protein_name": "Chloride channel protein", "disease": [ { "disease_id": "DOID:0061189", "name": "neuronal ceroid lipofuscinosis 15", "description": "A neuronal ceroid lipofuscinosis that is characterized by severe global developmental delay apparent in infancy or early childhood and that has_material_basis_in heterozygous mutation in the CLCN6 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0061189", "evidence": [ { "id": "0061189", "database": "AGR", "url": 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"" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "D4A4I3", "url": "https://www.uniprot.org/uniprotkb/D4A4I3" } ], "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": "D4A4I3", "url": "https://www.uniprot.org/uniprotkb/D4A4I3" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "D4A4I3", "url": "https://www.uniprot.org/uniprotkb/D4A4I3" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": 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