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"Q9JM63", "url": "https://www.uniprot.org/uniprotkb/Q9JM63" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q9JM63", "url": "https://www.uniprot.org/uniprotkb/Q9JM63" } ], "pmid": "" }, { "name": "membrane hyperpolarization", "id": "GO:0060081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060081", "evidence": [ { "database": "UniProtKB", "id": "Q9JM63", "url": "https://www.uniprot.org/uniprotkb/Q9JM63" } ], "pmid": "" }, { "name": "potassium ion homeostasis", "id": "GO:0055075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055075", "evidence": [ { "database": "UniProtKB", "id": "Q9JM63", "url": "https://www.uniprot.org/uniprotkb/Q9JM63" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q9JM63", "url": 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"https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050730", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "protein kinase C signaling", "id": "GO:0070528", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070528", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway", "id": "GO:0097193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097193", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002026", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "regulation of muscle contraction", "id": "GO:0006937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006937", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "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": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045651", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "desmosome assembly", "id": "GO:0002159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002159", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "central nervous system neuron axonogenesis", "id": "GO:0021955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021955", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "peptidyl-serine autophosphorylation", "id": "GO:0036289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036289", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031666", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], "pmid": "" }, { "name": "positive regulation of exocytosis", "id": "GO:0045921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045921", "evidence": [ { "database": "UniProtKB", "id": "P20444", "url": "https://www.uniprot.org/uniprotkb/P20444" } ], 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Cells show increased levels of WNK1 and WNK4.", "evidence": [ { "database": "UniProtKB", "id": "E0CZ16", "url": "https://www.uniprot.org/uniprotkb/E0CZ16" }, { "database": "PubMed", "id": "24821705", "url": "https://glygen.org/publication/PubMed/24821705" } ] } ] } ], "record_id": "E0CZ16-1" }, { "uniprot_canonical_ac": "P41160-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 167, "chemical_mass": 18709.0, "gene_names": "Lep;Lep;Ob;obese;ob", "protein_name": "Leptin", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0060611", "name": "abdominal obesity-metabolic syndrome", "description": "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:0060611", "evidence": [ { "id": "0060611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060611" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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loss or the loss of function of a portion of the small and/or large intestine.", "url": "https://disease-ontology.org/term/DOID:10605", "evidence": [ { "id": "10605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10605" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1924", "name": "hypogonadism", "description": "A gonadal disease that is characterized by diminished functional activity of the gonads.", "url": "https://disease-ontology.org/term/DOID:1924", "evidence": [ { "id": "1924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1924" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5016", "name": "hepatocellular clear cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5016", "evidence": [ { "id": "5016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5016" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "sexual reproduction", "id": "GO:0019953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019953", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "negative regulation of lipid storage", "id": "GO:0010888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010888", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "fatty acid beta-oxidation", "id": "GO:0006635", "url": 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"GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "positive regulation of monoatomic ion transport", "id": "GO:0043270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043270", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "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": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "P41160", "url": "https://www.uniprot.org/uniprotkb/P41160" } ], "pmid": "" }, { 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transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "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": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "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": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "neural crest cell development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "phosphorylation", "id": "GO:0016310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016310", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to toxic substance", "id": "GO:0097237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097237", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "response to exogenous dsRNA", "id": "GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "regulation of cytoskeleton organization", "id": "GO:0051493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051493", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "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": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "stress-activated MAPK cascade", "id": "GO:0051403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051403", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "decidualization", "id": "GO:0046697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046697", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "response to epidermal growth factor", "id": "GO:0070849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070849", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "negative regulation of cholesterol efflux", "id": "GO:0090370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090370", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "regulation of cellular pH", "id": "GO:0030641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030641", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cardiac neural crest cell development involved in heart development", "id": "GO:0061308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061308", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "negative regulation of T cell activation", "id": "GO:0050868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050868", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "regulation of stress-activated MAPK cascade", "id": "GO:0032872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032872", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "trachea formation", "id": "GO:0060440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060440", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of xenophagy", "id": "GO:1904417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904417", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of cyclase activity", "id": "GO:0031281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031281", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "regulation of Golgi inheritance", "id": "GO:0090170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090170", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "outer ear morphogenesis", "id": "GO:0042473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042473", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of neuroinflammatory response", "id": "GO:0150078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150078", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "negative regulation of T cell mediated immune response to tumor cell", "id": "GO:0002841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002841", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "interleukin-34-mediated signaling pathway", "id": "GO:0061514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061514", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "positive regulation of macrophage proliferation", "id": "GO:0120041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120041", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": "https://www.uniprot.org/uniprotkb/Q63844" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q63844", "url": 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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: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: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: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 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cytokine receptor binding", "id": "GO:0005126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005126", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "dopachrome isomerase activity", "id": "GO:0004167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004167", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "phenylpyruvate tautomerase activity", "id": "GO:0050178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050178", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "protein homotrimerization", "id": "GO:0070207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070207", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of adaptive immune response", "id": "GO:0002821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002821", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of lipopolysaccharide-mediated signaling pathway", "id": "GO:0031666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031666", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "prostaglandin biosynthetic process", "id": "GO:0001516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001516", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "negative regulation of macrophage chemotaxis", "id": "GO:0010760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010760", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin secretion involved in immune response", "id": "GO:0061078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061078", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of myeloid leukocyte cytokine production involved in immune response", "id": "GO:0061081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061081", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "positive regulation of arachidonate secretion", "id": "GO:0090238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090238", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": "carboxylic acid metabolic process", "id": "GO:0019752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019752", "evidence": [ { "database": "UniProtKB", "id": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "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": "P34884", "url": "https://www.uniprot.org/uniprotkb/P34884" } ], "pmid": "" }, { "name": 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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:0060799", "name": "syndromic X-linked intellectual disability Lubs type", "description": "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.", "url": "https://disease-ontology.org/term/DOID:0060799", "evidence": [ { "id": "0060799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060799" } ], "weight": 0.0 }, { "disease_id": "DOID:0060827", "name": "X-linked intellectual 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"name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "response to other organism", "id": "GO:0051707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051707", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "sensory perception of touch", "id": "GO:0050975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050975", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cellular response to isoquinoline alkaloid", "id": "GO:0071317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071317", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive 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"pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": 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}, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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": "Q9Z2D6", "url": 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"https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "phosphatidylcholine metabolic process", "id": "GO:0046470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046470", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "behavioral fear response", "id": "GO:0001662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001662", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of synaptic plasticity", "id": "GO:0031915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell differentiation", "id": "GO:0051151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051151", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "biogenic amine metabolic process", "id": "GO:0006576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006576", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "glucocorticoid metabolic process", "id": "GO:0008211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008211", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "ventricular system development", "id": "GO:0021591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021591", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "glutamine metabolic process", "id": "GO:0006541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006541", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine development", "id": "GO:0060999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060999", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine development", "id": "GO:0061000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061000", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of locomotion involved in locomotory behavior", "id": "GO:0090327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090327", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuromuscular process controlling posture", "id": "GO:0050884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050884", 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"https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cellular response to potassium ion", "id": "GO:0035865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035865", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of dendrite extension", "id": "GO:1903860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903860", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "neuron maturation", "id": "GO:0042551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042551", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "negative regulation of astrocyte differentiation", "id": "GO:0048712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048712", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "positive regulation of microtubule nucleation", "id": "GO:0090063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090063", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cardiolipin metabolic process", "id": "GO:0032048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032048", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "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", 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development", "id": "GO:2000026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000026", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "heterochromatin", "id": "GO:0000792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000792", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": "https://www.uniprot.org/uniprotkb/Q9Z2D6" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2D6", "url": 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"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: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: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: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 granulocyte differentiation", "id": "GO:0030854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030854", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "T-helper 1 cell differentiation", "id": "GO:0045063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045063", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "paraxial mesoderm formation", "id": "GO:0048341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048341", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "forebrain radial glial cell differentiation", "id": "GO:0021861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021861", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of odontoblast differentiation", "id": "GO:1901331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901331", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "neutrophil differentiation", "id": "GO:0030223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030223", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "negative regulation of interleukin-5 production", "id": "GO:0032714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032714", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "alpha-beta T cell differentiation", "id": "GO:0046632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046632", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "regulation of Wnt signaling pathway", "id": "GO:0030111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030111", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "apoptotic process involved in morphogenesis", "id": "GO:0060561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060561", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "formation of radial glial scaffolds", "id": "GO:0021943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021943", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "forebrain neuroblast division", "id": "GO:0021873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021873", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "cellular response to interleukin-4", "id": "GO:0071353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071353", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "apoptotic process involved in blood vessel morphogenesis", "id": "GO:1902262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902262", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "sensory perception of taste", "id": "GO:0050909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050909", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of gamma-delta T cell differentiation", "id": "GO:0045588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045588", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "odontoblast differentiation", "id": "GO:0071895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071895", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "trachea gland development", "id": "GO:0061153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061153", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "T cell receptor V(D)J recombination", "id": "GO:0033153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033153", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "anatomical structure regression", "id": "GO:0060033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060033", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "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": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process in bone marrow cell", "id": "GO:0071866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071866", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "positive regulation of cell cycle process", "id": "GO:0090068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090068", "evidence": [ { "database": "UniProtKB", "id": "P27782", "url": "https://www.uniprot.org/uniprotkb/P27782" } ], "pmid": "" }, { "name": "secondary palate development", "id": "GO:0062009", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "stereocilium", "id": "GO:0032420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "1-alkyl-2-acetylglycerophosphocholine esterase complex", "id": "GO:0008247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008247", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" } ], "biological_process": [ { "name": "retrograde axonal transport", "id": "GO:0008090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008090", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "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": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "transmission of nerve impulse", "id": "GO:0019226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019226", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "osteoclast development", "id": "GO:0036035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036035", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "positive regulation of embryonic development", "id": "GO:0040019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040019", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "maintenance of centrosome location", "id": "GO:0051661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051661", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "negative regulation of JNK cascade", "id": "GO:0046329", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046329", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "brain morphogenesis", "id": "GO:0048854", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048854", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "nuclear membrane disassembly", "id": "GO:0051081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051081", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "positive regulation of dendritic spine morphogenesis", "id": "GO:0061003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061003", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cerebral cortex neuron differentiation", "id": "GO:0021895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021895", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "vesicle transport along microtubule", "id": "GO:0047496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047496", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "stem cell division", "id": "GO:0017145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017145", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "reelin-mediated signaling pathway", "id": "GO:0038026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038026", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "corpus callosum morphogenesis", "id": "GO:0021540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021540", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "ameboidal-type cell migration", "id": "GO:0001667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001667", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule organizing center organization", "id": "GO:0031023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031023", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "nuclear migration", "id": "GO:0007097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007097", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization involved in establishment of planar polarity", "id": "GO:0090176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090176", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "positive regulation of cellular component organization", "id": "GO:0051130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051130", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule-based process", "id": "GO:0007017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007017", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "establishment of planar polarity of embryonic epithelium", "id": "GO:0042249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042249", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "auditory receptor cell development", "id": "GO:0060117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060117", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule sliding", "id": "GO:0051012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051012", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cortical microtubule organization", "id": "GO:0043622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043622", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "establishment of centrosome localization", "id": "GO:0051660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051660", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051010", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P63005-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Ser109", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P63005", "url": "https://www.uniprot.org/uniprotkb/P63005" } ] } ] }, { "uniprot_canonical_ac": "P63005-1", "start_pos": "149", "end_pos": "149", "site_lbl": "His149", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Abrogates 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"Q69ZK9", "url": "https://www.uniprot.org/uniprotkb/Q69ZK9" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q69ZK9", "url": "https://www.uniprot.org/uniprotkb/Q69ZK9" } ], "pmid": "" }, { "name": "neuromuscular process controlling balance", "id": "GO:0050885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050885", "evidence": [ { "database": "UniProtKB", "id": "Q69ZK9", "url": "https://www.uniprot.org/uniprotkb/Q69ZK9" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q69ZK9", "url": "https://www.uniprot.org/uniprotkb/Q69ZK9" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "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": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "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": "Q63943", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q63943", "url": "https://www.uniprot.org/uniprotkb/Q63943" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", 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"https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "myofibril", "id": "GO:0030016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "cardiac myofibril", "id": "GO:0097512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "myosin 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009791", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "cardiac myofibril assembly", "id": "GO:0055003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055003", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" }, { "name": "regulation of the force of heart contraction", "id": "GO:0002026", "url": 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"GO:0098735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098735", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P51667-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Ser14", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "iPTMnet", "id": "P51667", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51667" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" }, { "database": "PubMed", "id": "20445002", "url": "https://glygen.org/publication/PubMed/20445002" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of cardiac myofibril assembly; when associated with A-15 and A-19. Loss of phosphorylation; when associated with A-15 and A-19. Loss of calcium sensitivity of force development; when associated with A-15 and A-19. Phosphorylation at Ser-19; when associated with A-15. Significant decrease in phosphorylation by MLCK; when associated with A-15. Adult lethality associated with early defects in cardiac twitch relaxation and torsion leading to dilated cardiomyopathy, heart failure and premature death; when associated with A-15. Significant acceleration of twitch relaxation in absence of changes in calcium transients; when associated with A-15. Absence of transmural phosphorylation gradient leading to alteration of torsion; when associated with A-14.", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "PubMed", "id": "10409661", "url": "https://glygen.org/publication/PubMed/10409661" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" } ] } ] }, { "uniprot_canonical_ac": "P51667-1", "start_pos": "15", "end_pos": "15", "site_lbl": "Ser15", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "iPTMnet", "id": "P51667", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51667" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" }, { "database": "PubMed", "id": "20445002", "url": "https://glygen.org/publication/PubMed/20445002" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of cardiac myofibril assembly; when associated with A-14 and A-19. Loss of phosphorylation; when associated with A-14 and A-19. Loss of calcium sensitivity of force development; when associated with A-14 and A-19. Increase of phosphorylation. Phosphorylation at Ser-14 and at Ser-19. Phosphorylation at Ser-19; when associated with A-14. Significant decrease in phosphorylation by MLCK; when associated with A-14. Adult lethality associated with early defects in cardiac twitch relaxation and torsion leading to dilated cardiomyopathy, heart failure and premature death; when associated with A-14. Significant acceleration of twitch relaxation in absence of changes in calcium transients; when associated with A-14. Absence of transmural phosphorylation gradient leading to alteration of torsion; when associated with A-14.", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "PubMed", "id": "10409661", "url": "https://glygen.org/publication/PubMed/10409661" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" } ] } ] }, { "uniprot_canonical_ac": "P51667-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Ser19", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P51667", "url": "https://www.uniprot.org/uniprotkb/P51667" }, { "database": "PubMed", "id": "22426213", "url": "https://glygen.org/publication/PubMed/22426213" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P51667", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P51667" }, { "database": "PubMed", "id": "31402636", "url": "https://glygen.org/publication/PubMed/31402636" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of cardiac myofibril assembly; when associated with A-14 and A-15. Loss of phosphorylation; when associated with A-14 and A-15. 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"https://www.uniprot.org/uniprotkb/O70299" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 359, "chemical_mass": 40956.0, "gene_names": "Mab21l1;Mab21l1;Mab21", "protein_name": "Putative nucleotidyltransferase MAB21L1", "disease": [ { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "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": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" }, { "name": "nucleotidyltransferase activity", "id": "GO:0016779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016779", "evidence": [ { "database": "UniProtKB", "id": "O70299", "url": "https://www.uniprot.org/uniprotkb/O70299" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O70299-1" }, { "uniprot_canonical_ac": "P25911-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 512, "chemical_mass": 58812.0, "gene_names": "Lyn;Hck-2;Lyn;p53Lyn;p56Lyn", "protein_name": "Tyrosine-protein kinase Lyn", "disease": [ { "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:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized 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"https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "cell morphogenesis", "id": "GO:0000902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000902", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "adaptive immune response", "id": "GO:0002250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002250", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "B cell receptor signaling pathway", "id": "GO:0050853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050853", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "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": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "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": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "hematopoietic progenitor cell differentiation", "id": "GO:0002244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002244", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of mast cell degranulation", "id": "GO:0043304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043304", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051279", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of B cell proliferation", "id": "GO:0030889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030889", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "B cell homeostasis", "id": "GO:0001782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001782", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "DNA damage checkpoint signaling", "id": "GO:0000077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000077", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of erythrocyte differentiation", "id": "GO:0045646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045646", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "immune response-regulating cell surface receptor signaling pathway", "id": "GO:0002768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002768", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034145", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "hemoglobin biosynthetic process", "id": "GO:0042541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042541", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "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": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "Fc receptor mediated inhibitory signaling pathway", "id": "GO:0002774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002774", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "B cell proliferation", "id": "GO:0042100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "dendritic cell differentiation", "id": "GO:0097028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097028", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "histamine secretion by mast cell", "id": "GO:0002553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002553", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of B cell apoptotic process", "id": "GO:0002902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002902", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034144", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of B cell receptor signaling pathway", "id": "GO:0050855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050855", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte progenitor proliferation", "id": "GO:0070447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070447", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of platelet aggregation", "id": "GO:0090330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090330", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of myeloid leukocyte differentiation", "id": "GO:0002762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002762", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "response to sterol depletion", "id": "GO:0006991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006991", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of mast cell activation", "id": "GO:0033003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033003", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of mast cell proliferation", "id": "GO:0070667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070667", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of mast cell proliferation", "id": "GO:0070668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070668", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "regulation of monocyte chemotaxis", "id": "GO:0090025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090025", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of Fc receptor mediated stimulatory signaling pathway", "id": "GO:0060369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060369", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "negative regulation of B cell receptor signaling pathway", "id": "GO:0050859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050859", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell apoptotic process", "id": "GO:2000670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000670", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "neuroinflammatory response", "id": "GO:0150076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150076", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "C-X-C chemokine receptor CXCR4 signaling pathway", "id": "GO:0038159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038159", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" } ], "molecular_function": [ { "name": "glycosphingolipid binding", "id": "GO:0043208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043208", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor binding", "id": "GO:0005161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005161", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "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": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "signaling receptor activator activity", "id": "GO:0030546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030546", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "ephrin receptor binding", "id": "GO:0046875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046875", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "phosphoprotein binding", "id": "GO:0051219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051219", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "erythropoietin receptor binding", "id": "GO:0005128", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005128", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "gamma-tubulin binding", "id": "GO:0043015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043015", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "phosphorylation-dependent protein binding", "id": "GO:0140031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140031", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase activator activity", "id": "GO:0141038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141038", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P25911", "url": "https://www.uniprot.org/uniprotkb/P25911" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": 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bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "keratinocyte development", "id": "GO:0003334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "optic vesicle morphogenesis", "id": "GO:0003404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003404", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "optic cup structural organization", "id": "GO:0003409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003409", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "negative regulation of transcription by competitive promoter binding", "id": "GO:0010944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010944", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "trigeminal nerve development", "id": "GO:0021559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021559", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "oculomotor nerve formation", "id": "GO:0021623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021623", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "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": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "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": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "positive regulation of tooth mineralization", "id": "GO:0070172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070172", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "cellular response to iron ion", "id": "GO:0071281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071281", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "metanephric nephron development", "id": "GO:0072210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072210", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "forebrain neuron development", "id": "GO:0021884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021884", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "lens morphogenesis in camera-type eye", "id": "GO:0002089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002089", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "lens induction in camera-type eye", "id": "GO:0060235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060235", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "basement membrane organization", "id": "GO:0071711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071711", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "anterior neuropore closure", "id": "GO:0021506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021506", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "epidermis morphogenesis", "id": "GO:0048730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048730", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "cornea development in camera-type eye", "id": "GO:0061303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061303", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "sensory organ development", "id": "GO:0007423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007423", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "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": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P34056", "url": "https://www.uniprot.org/uniprotkb/P34056" } ], "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": "P34056", 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"id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "endothelial cell migration", "id": "GO:0043542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043542", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "Harderian gland development", "id": "GO:0070384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070384", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "organic anion transport", "id": "GO:0015711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015711", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "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": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "toxin metabolic process", "id": "GO:0009404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009404", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "L-tryptophan metabolic process", "id": "GO:0006568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006568", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "asymmetric cell division", "id": "GO:0008356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008356", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "heme biosynthetic process", "id": "GO:0006783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006783", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "collagen biosynthetic process", "id": "GO:0032964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032964", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "mitochondrial fission", "id": "GO:0000266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000266", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "embryonic heart tube development", "id": "GO:0035050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035050", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "transepithelial transport", "id": "GO:0070633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070633", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "urate biosynthetic process", "id": "GO:0034418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034418", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "riboflavin transport", "id": "GO:0032218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032218", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "sulfate transmembrane transport", "id": "GO:1902358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902358", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "protoporphyrinogen IX metabolic process", "id": "GO:0046501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046501", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "endothelial cell apoptotic process", "id": "GO:0072577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072577", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "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": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "xenobiotic transport", "id": "GO:0042908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042908", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "cellular response to prolactin", "id": "GO:1990646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990646", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "porphyrin-containing compound metabolic process", "id": "GO:0006778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006778", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "connective tissue replacement involved in inflammatory response wound healing", "id": "GO:0002248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002248", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "urate transport", "id": "GO:0015747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015747", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "negative regulation of intestinal absorption", "id": "GO:1904479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904479", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "export across plasma membrane", "id": "GO:0140115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140115", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "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": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "tetrapyrrole metabolic process", "id": "GO:0033013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033013", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "renal urate salt excretion", "id": "GO:0097744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097744", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to bleomycin", "id": "GO:1904975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904975", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to decreased oxygen levels", "id": "GO:0036293", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036293", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to paraquat", "id": "GO:1901562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901562", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "connective tissue replacement", "id": "GO:0097709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097709", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "mesenchymal stem cell differentiation", "id": "GO:0072497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072497", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "neural tissue regeneration", "id": "GO:0097719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097719", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "myofibroblast differentiation", "id": "GO:0036446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036446", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "kynurenic acid metabolic process", "id": "GO:0034275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034275", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "heart capillary growth", "id": "GO:0003248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003248", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "sulfite export across plasma membrane", "id": "GO:0160244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160244", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to alcohol", "id": "GO:0097305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097305", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q7TMS5", "url": "https://www.uniprot.org/uniprotkb/Q7TMS5" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": 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"chr_id": "19", "chr_pos": "45764628", "evidence": [ { "id": "rs3389538137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538137" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Asp177", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45764610", "evidence": [ { "id": "rs3389491687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491687" } ] } ], "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "2-fold decrease in substrate affinity and 96% reduction in O-GlcNAcase activity. Regains appreciable level of catalytic efficiency in the acidic pH range. 40% recovery of activity in the presence of sodium azide.", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" }, { "database": "PubMed", "id": "16517082", "url": "https://glygen.org/publication/PubMed/16517082" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Arg17", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771520", "evidence": [ { "id": "rs3389521660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521660" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Glu186", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45764583", "evidence": [ { "id": "rs3389558878", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389558878" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "211", "end_pos": "211", "site_lbl": "Thr211", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45764508", "evidence": [ { "id": "rs3389510101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510101" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Val254", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760397", "evidence": [ { "id": "rs3389535701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535701" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "303", "end_pos": "303", "site_lbl": "Leu303", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760250", "evidence": [ { "id": "rs3389554540", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389554540" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Arg306", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760240", "evidence": [ { "id": "rs3412964925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412964925" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Glu317", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760208", "evidence": [ { "id": "rs3389543703", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543703" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Gln31", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771478", "evidence": [ { "id": "rs248234811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248234811" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "343", "end_pos": "343", "site_lbl": "Val343", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45760130", "evidence": [ { "id": "rs3389535763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535763" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Ser351", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45758633", "evidence": [ { "id": "rs3389521618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521618" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Val372", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45758570", "evidence": [ { "id": "rs3389521622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521622" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "436", "end_pos": "436", "site_lbl": "Pro436", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756335", "evidence": [ { "id": "rs3389536557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536557" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Lys457", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756271", "evidence": [ { "id": "rs3389510037", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510037" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Val469", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756237", "evidence": [ { "id": "rs3389491605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491605" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "471", "end_pos": "471", "site_lbl": "Lys471", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756230", "evidence": [ { "id": "rs3389542765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542765" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Asn481", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756200", "evidence": [ { "id": "rs3389544643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544643" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Ile483", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756195", "evidence": [ { "id": "rs3389500044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500044" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756189", "evidence": [ { "id": "rs3389544610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544610" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Val50", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746448", "evidence": [ { "id": "rs3389538147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538147" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Ser515", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756099", "evidence": [ { "id": "rs3389535751", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389535751" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Gly52", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771416", "evidence": [ { "id": "rs249909019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249909019" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Phe538", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45756028", "evidence": [ { "id": "rs3389510017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510017" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ala53", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771413", "evidence": [ { "id": "rs232281419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232281419" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Tyr548", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45755998", "evidence": [ { "id": "rs3389547491", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389547491" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ala612", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45754038", "evidence": [ { "id": "rs3389500013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389500013" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Met622", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45754008", "evidence": [ { "id": "rs3389542768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542768" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "643", "end_pos": "643", "site_lbl": "Tyr643", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45753944", "evidence": [ { "id": "rs3409360243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3409360243" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Lys655", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45753909", "evidence": [ { "id": "rs3389538153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538153" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "660", "end_pos": "660", "site_lbl": "Trp660", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45753894", "evidence": [ { "id": "rs3389543695", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389543695" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Ile673", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45750676", "evidence": [ { "id": "rs3389510020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510020" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45771553", "evidence": [ { "id": "rs36481011", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36481011" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "755", "end_pos": "755", "site_lbl": "Leu755", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746534_45746535insCTCCACACTACCTCAACCATCA", "evidence": [ { "id": "rs3389536532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536532" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Phe768", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746495", "evidence": [ { "id": "rs3389521612", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389521612" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "771", "end_pos": "771", "site_lbl": "Glu771", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746485", "evidence": [ { "id": "rs3389554606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389554606" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "784", "end_pos": "784", "site_lbl": "Val784", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746448", "evidence": [ { "id": "rs3389538147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538147" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "788", "end_pos": "788", "site_lbl": "Pro788", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45746435", "evidence": [ { "id": "rs3389544560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389544560" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Met845", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45743125", "evidence": [ { "id": "rs3389450593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389450593" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Gln86", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45767119", "evidence": [ { "id": "rs3389538098", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389538098" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "871", "end_pos": "871", "site_lbl": "Asn871", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "45743047", "evidence": [ { "id": "rs3389542779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389542779" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asp174", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "2-fold increase in substrate affinity and 77% reduction in O-GlcNAcase activity. Regains appreciable level of catalytic efficiency in the acidic pH range. No recovery of activity in the presence of sodium azide.", "evidence": [ { "database": "UniProtKB", "id": "Q9EQQ9", "url": "https://www.uniprot.org/uniprotkb/Q9EQQ9" }, { "database": "PubMed", "id": "16517082", "url": "https://glygen.org/publication/PubMed/16517082" } ] } ] }, { "uniprot_canonical_ac": "Q9EQQ9-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Asp175", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "3-fold increase in substrate affinity and 90% reduction in O-GlcNAcase activity. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006346", "evidence": [ { "database": "UniProtKB", "id": "F8VPN2", "url": "https://www.uniprot.org/uniprotkb/F8VPN2" } ], "pmid": "" }, { "name": "protein localization to chromosome", "id": "GO:0034502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034502", "evidence": [ { "database": "UniProtKB", "id": "F8VPN2", "url": "https://www.uniprot.org/uniprotkb/F8VPN2" } ], "pmid": "" }, { "name": "regulation of double-strand break repair via homologous recombination", "id": "GO:0010569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010569", "evidence": [ { "database": "UniProtKB", "id": "F8VPN2", "url": "https://www.uniprot.org/uniprotkb/F8VPN2" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "F8VPN2", "url": "https://www.uniprot.org/uniprotkb/F8VPN2" } ], "pmid": "" }, { "name": "transposable element silencing by 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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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of circadian sleep/wake cycle, sleep", "id": "GO:0042321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042321", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "G protein-coupled purinergic nucleotide receptor signaling pathway", "id": "GO:0035589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035589", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of G protein-coupled receptor signaling pathway", "id": "GO:0045745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045745", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of respiratory gaseous exchange by nervous system process", "id": "GO:0002087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002087", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of acute inflammatory response", "id": "GO:0002674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002674", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of leukocyte migration", "id": "GO:0002686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002686", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of peptide secretion", "id": "GO:0002793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002793", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of systemic arterial blood pressure", "id": "GO:0003084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003084", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of glomerular filtration", "id": "GO:0003093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003093", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of glutamate secretion", "id": "GO:0014050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014050", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, GABAergic", "id": "GO:0032229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032229", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of nucleoside transport", "id": "GO:0032244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032244", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of neurotrophin production", "id": "GO:0032900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032900", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0042323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042323", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "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": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of lipid catabolic process", "id": "GO:0050995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050995", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, glutamatergic", "id": "GO:0051967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of long-term synaptic depression", "id": "GO:1900453", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900453", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "fatty acid homeostasis", "id": "GO:0055089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of lipid catabolic process", "id": "GO:0050996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050996", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction", "id": "GO:0055117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055117", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell contraction", "id": "GO:0086004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086004", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of presynaptic cytosolic calcium ion concentration", "id": "GO:0099509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099509", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "positive regulation of dephosphorylation", "id": "GO:0035306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035306", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "inhibition of non-skeletal tissue mineralization", "id": "GO:0140928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140928", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of signaling", "id": "GO:0023051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023051", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "regulation of cell communication", "id": "GO:0010646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010646", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" } ], "cellular_component": [ { "name": "calyx of Held", "id": "GO:0044305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044305", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" }, { "name": "intracellular protein-containing complex", "id": "GO:0140535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140535", "evidence": [ { "database": "UniProtKB", "id": "Q60612", "url": "https://www.uniprot.org/uniprotkb/Q60612" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": 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"description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": 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permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "biological_process": [ { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P22599", "url": "https://www.uniprot.org/uniprotkb/P22599" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P22599", "url": "https://www.uniprot.org/uniprotkb/P22599" } ], "pmid": "" }, { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "P22599", "url": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": 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resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0060186", "name": "chemical colitis", "description": "A colitis caused_by introduction of various chemicals.", "url": "https://disease-ontology.org/term/DOID:0060186", "evidence": [ { "id": "0060186", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060186" } ], "weight": 0.0 }, { "disease_id": "DOID:0060189", "name": "ileitis", "description": "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.", "url": "https://disease-ontology.org/term/DOID:0060189", "evidence": [ { "id": "0060189", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060189" } ], "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: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:13372", "name": "alpha 1-antitrypsin deficiency", "description": "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.", "url": "https://disease-ontology.org/term/DOID:13372", "evidence": [ { "id": "13372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13372" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by 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"url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "behavioral response to nicotine", "id": "GO:0035095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035095", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "regulation of membrane potential", "id": "GO:0042391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042391", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "synaptic transmission involved in micturition", "id": "GO:0060084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060084", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", "url": "https://www.uniprot.org/uniprotkb/Q8R4G9" } ], "pmid": "" }, { "name": "regulation of appetite", "id": "GO:0032098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032098", "evidence": [ { "database": "UniProtKB", "id": "Q8R4G9", 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to purine-containing compound", "id": "GO:0014074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014074", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of glutamate secretion", "id": "GO:0014049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014049", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of acetylcholine secretion, neurotransmission", "id": "GO:0014057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014057", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of norepinephrine secretion", "id": "GO:0014061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014061", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to caffeine", "id": "GO:0031000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031000", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, GABAergic", "id": "GO:0032230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032230", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "synaptic transmission, glutamatergic", "id": "GO:0035249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035249", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045938", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell activation", "id": "GO:0046636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046636", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of mitochondrial membrane potential", "id": "GO:0051881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051881", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "inhibitory postsynaptic potential", "id": "GO:0060080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060080", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "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": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor signaling pathway", "id": "GO:0001973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001973", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "presynaptic modulation of chemical synaptic transmission", "id": "GO:0099171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099171", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "inhibition of non-skeletal tissue mineralization", "id": "GO:0140928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140928", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "asymmetric synapse", "id": "GO:0032279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032279", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "axolemma", "id": "GO:0030673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030673", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "G protein-coupled adenosine receptor activity", "id": "GO:0001609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001609", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "type 5 metabotropic glutamate receptor binding", "id": "GO:0031802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031802", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "alpha-actinin binding", "id": "GO:0051393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051393", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "Q60613", "url": "https://www.uniprot.org/uniprotkb/Q60613" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q60613-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asn142", "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": 142, "start_aa": "Asn", "end_pos": 142, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn142", "evidence": [ { "id": "Q60613", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60613#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q60613-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Asn149", "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": 149, "start_aa": "Asn", "end_pos": 149, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn149", "evidence": [ { "id": "Q60613", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q60613#ptm_processing" } ] } ] } ], "record_id": "Q60613-1" }, { "uniprot_canonical_ac": "Q6PAT0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 349, "chemical_mass": 37517.0, "gene_names": "Adat3;A430024H01Rik;Adat3", "protein_name": "tRNA-specific adenosine-34 deaminase regulatory subunit ADAT3", "disease": [ { "disease_id": "DOID:0081099", "name": "neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies", "description": "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0081099", "evidence": [ { "id": "0081099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081099" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" } ], "biological_process": [ { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": 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Reduces neuronal migration in the embryonic cortex.", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" }, { "database": "PubMed", "id": "34057470", "url": "https://glygen.org/publication/PubMed/34057470" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Does not affect tRNA-binding activity. Reduces neuronal migration in the embryonic cortex.", "evidence": [ { "database": "UniProtKB", "id": "Q6PAT0", "url": "https://www.uniprot.org/uniprotkb/Q6PAT0" }, { "database": "PubMed", "id": "34057470", "url": "https://glygen.org/publication/PubMed/34057470" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Does not affect tRNA binding or solubility but the ADAT2-ADAT3 heterodimer displays reduced deamination activity. Perturbs but does not prevent folding of the ADAT3 N-terminal domain. Reduces neuronal migration in the embryonic cortex. 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"https://www.ebi.ac.uk/QuickGO/term/GO:1905601", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "intracellular sphingolipid homeostasis", "id": "GO:0090156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090156", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "ceramide translocation", "id": "GO:0099040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099040", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "regulation of post-translational protein modification", "id": "GO:1901873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901873", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "negative regulation of steroid metabolic process", "id": "GO:0045939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045939", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "positive regulation of amyloid precursor protein catabolic process", "id": "GO:1902993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902993", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "negative regulation of intracellular cholesterol transport", "id": "GO:0032384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032384", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": "https://www.uniprot.org/uniprotkb/P41234" } ], "pmid": "" }, { "name": "regulation of protein localization to cell periphery", "id": "GO:1904375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904375", "evidence": [ { "database": "UniProtKB", "id": "P41234", "url": 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Abolishes N-glycosylation; when associated with Q-585.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "15054092", "url": "https://glygen.org/publication/PubMed/15054092" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Ile266", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "17", "chr_pos": "84978660", "evidence": [ { "id": "rs3389476103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389476103" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Ile194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "No effect on cholesterol and sitosterol transport activity; when associated with G-196.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Ser196", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "No effect on cholesterol and sitosterol transport activity; when associated with V-194.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Gly197", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "No effect on cholesterol and sitosterol transport activity. Mildly reduced expression of ABCG5 and ABCG8.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Glu219", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Decreases expression of both ABCG5 and ABCG8. Disrupts sterol transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] }, { "sequence_org": "E", "sequence_mut": "Q", "comment": "Strongly decreases expression of both ABCG5 and ABCG8. Disrupts sterol transport activity.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Cys61", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes palmitoylation. No effect on function and subcellular location.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "18402465", "url": "https://glygen.org/publication/PubMed/18402465" } ] } ] }, { "uniprot_canonical_ac": "Q99PE8-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Lys93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Disrupts sterol transport activity. Decreases expression of both ABCG5 and ABCG8.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" }, { "database": "PubMed", "id": "16867993", "url": "https://glygen.org/publication/PubMed/16867993" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Strongly reduces cholesterol transport activity, but has little effect on biliary secretion of campesterol and sitosterol. No effect on ATP-binding and on expression of ABCG5 and ABCG8.", "evidence": [ { "database": "UniProtKB", "id": "Q99PE8", "url": "https://www.uniprot.org/uniprotkb/Q99PE8" }, { "database": "PubMed", "id": "16352607", "url": "https://glygen.org/publication/PubMed/16352607" } ] } ] } ], "record_id": "Q99PE8-1" }, { "uniprot_canonical_ac": "Q4KML4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4KML4", "url": "https://www.uniprot.org/uniprotkb/Q4KML4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 81, "chemical_mass": 9030.0, "gene_names": "Abracl;1700028I04Rik;3110003A17Rik;Abracl", "protein_name": "Costars family protein ABRACL", "disease": [], "biological_process": [ { "name": "regulation of actin filament-based process", "id": "GO:0032970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032970", "evidence": [ { "database": "UniProtKB", "id": "Q4KML4", "url": 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q925E7", "url": "https://www.uniprot.org/uniprotkb/Q925E7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 453, "chemical_mass": 51957.0, "gene_names": "Ppp2r2d;1300017E19Rik;D7Ertd753e;Kiaa1541;MDS026;Ppp2r2d", "protein_name": "Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B delta isoform", "disease": [ { "disease_id": "DOID:1441", "name": "autosomal dominant cerebellar ataxia", "description": "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.", "url": "https://disease-ontology.org/term/DOID:1441", "evidence": [ { "id": "1441", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1441" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { 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"url": "https://www.uniprot.org/uniprotkb/Q811Q4" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q811Q4", "url": "https://www.uniprot.org/uniprotkb/Q811Q4" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q811Q4", "url": "https://www.uniprot.org/uniprotkb/Q811Q4" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q811Q4", "url": "https://www.uniprot.org/uniprotkb/Q811Q4" } ], "pmid": "" } ], "molecular_function": [ { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "Q811Q4", "url": 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"P21836-1" }, { "uniprot_canonical_ac": "P35363-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 471, "chemical_mass": 52842.0, "gene_names": "Htr2a;5-HT-2A;5-HT-2;E030013E04;Htr-2;Htr2a;Htr2", "protein_name": "5-hydroxytryptamine receptor 2A", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "weight": 0.0 }, { "disease_id": "DOID:12399", "name": "pathological gambling", "description": "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.", "url": "https://disease-ontology.org/term/DOID:12399", "evidence": [ { "id": "12399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12399" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:252", "name": "alcoholic psychosis", "description": "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal.", "url": "https://disease-ontology.org/term/DOID:252", "evidence": [ { "id": "252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:252" } ], "weight": 0.0 }, { "disease_id": "DOID:2537", "name": "inflammatory and toxic neuropathy", "description": "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment.", "url": "https://disease-ontology.org/term/DOID:2537", "evidence": [ { "id": "2537", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2537" } ], "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:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:6088", "name": "acute stress disorder", "description": "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD.", "url": "https://disease-ontology.org/term/DOID:6088", "evidence": [ { "id": "6088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6088" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "cell body fiber", "id": "GO:0070852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070852", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "neurofilament", "id": "GO:0005883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005883", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "G protein-coupled serotonin receptor complex", "id": "GO:0098666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098666", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" } ], "biological_process": [ { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "id": "GO:0007187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007187", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "detection of temperature stimulus involved in sensory perception of pain", "id": "GO:0050965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050965", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, glutamatergic", "id": "GO:0051967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "P35363", "url": "https://www.uniprot.org/uniprotkb/P35363" } ], "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": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "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:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q00898", "url": "https://www.uniprot.org/uniprotkb/Q00898" } ], "pmid": "" }, { "name": "negative regulation of serine-type endopeptidase activity", "id": "GO:1900004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900004", "evidence": [ { "database": "UniProtKB", "id": 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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:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 } ], "biological_process": [ { "name": "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": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "angiotensin maturation", "id": "GO:0002003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002003", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by renin-angiotensin", "id": "GO:0003081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003081", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "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": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "angiotensin-mediated drinking behavior", "id": "GO:0003051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003051", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "tryptophan transport", "id": "GO:0015827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015827", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "symbiont entry into host 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"database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "metallopeptidase activity", "id": "GO:0008237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008237", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "carboxypeptidase activity", "id": "GO:0004180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004180", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "peptidyl-dipeptidase activity", "id": "GO:0008241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008241", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "metallocarboxypeptidase activity", "id": "GO:0004181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004181", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": "https://www.uniprot.org/uniprotkb/Q8R0I0" } ], "pmid": "" }, { "name": "transporter activator activity", "id": "GO:0141109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141109", "evidence": [ { "database": "UniProtKB", "id": "Q8R0I0", "url": 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"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": 23, "start_aa": "Asn", "end_pos": 23, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn23", "evidence": [ { "id": "Q8VD53", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8VD53#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8VD53-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Arg122", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDR->NDS).", "chr_id": "4", "chr_pos": "86818719", "evidence": [ { "id": "rs3394537194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394537194" } ] } ] } ], "record_id": "Q8VD53-1" }, { "uniprot_canonical_ac": "Q91X60-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 512, "chemical_mass": 58735.0, "gene_names": "Chrna2;Acra-2;Acra2;Chrna2", "protein_name": "Neuronal acetylcholine receptor subunit alpha-2", "disease": [ { "disease_id": "DOID:0060685", "name": "autosomal dominant nocturnal frontal lobe epilepsy 4", "description": "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21.", "url": "https://disease-ontology.org/term/DOID:0060685", "evidence": [ { "id": "0060685", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060685" } ], "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: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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} ], "cellular_component": [ { "name": "cation channel complex", "id": "GO:0034703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034703", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "acetylcholine-gated channel complex", "id": "GO:0005892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005892", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "synapse", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098878", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" } ], "biological_process": [ { "name": "modulation of inhibitory postsynaptic potential", "id": "GO:0098828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098828", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "synaptic transmission, cholinergic", "id": "GO:0007271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007271", "evidence": [ { "database": "UniProtKB", "id": "Q91X60", "url": "https://www.uniprot.org/uniprotkb/Q91X60" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", 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}, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "cholinergic synapse", "id": 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"url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "regulation of dendrite morphogenesis", "id": "GO:0048814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048814", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "synaptic transmission involved in micturition", "id": "GO:0060084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060084", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "acetylcholine receptor signaling pathway", "id": "GO:0095500", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0095500", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "response to acetylcholine", "id": "GO:1905144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905144", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "action potential", "id": "GO:0001508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001508", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": "https://www.uniprot.org/uniprotkb/Q9ERK7" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK7", "url": 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"description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0080909", "name": "castration-resistant prostate carcinoma", "description": "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production.", "url": "https://disease-ontology.org/term/DOID:0080909", "evidence": [ { "id": "0080909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080909" } ], "weight": 0.0 }, { "disease_id": "DOID:0111773", "name": "46,XY sex reversal 8", "description": "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1.", "url": "https://disease-ontology.org/term/DOID:0111773", "evidence": [ { "id": "0111773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111773" } ], "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: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "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": "17-beta-hydroxysteroid dehydrogenase (NADP+) activity", "id": "GO:0072582", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072582", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "aldose reductase (NADPH) activity", "id": "GO:0004032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004032", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "all-trans-retinol dehydrogenase (NAD+) activity", "id": "GO:0004745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004745", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "carboxylic acid binding", "id": "GO:0031406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031406", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "retinal dehydrogenase (NAD+) activity", "id": "GO:0001758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001758", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "Delta4-3-oxosteroid 5beta-reductase activity", "id": "GO:0047787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047787", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "alcohol dehydrogenase (NADP+) activity", "id": "GO:0008106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008106", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "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": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "geranylgeranyl reductase activity", "id": "GO:0045550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045550", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "androsterone dehydrogenase [NAD(P)+] activity", "id": "GO:0047023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047023", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "chlordecone reductase activity", "id": "GO:0047743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047743", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "bile acid binding", "id": "GO:0032052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032052", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "prostaglandin H2 endoperoxidase reductase activity", "id": "GO:0036130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036130", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "prostaglandin D2 11-ketoreductase activity", "id": "GO:0036131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036131", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "ketoreductase activity", "id": "GO:0045703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045703", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity", "id": "GO:0047020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047020", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "ketosteroid monooxygenase activity", "id": "GO:0047086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047086", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity", "id": "GO:0047115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047115", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "NADP+ binding", "id": "GO:0070401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070401", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "lithocholic acid binding", "id": "GO:1902121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902121", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "id": "GO:0033764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033764", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity", "id": "GO:0047024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047024", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "3-alpha-hydroxysteroid 3-dehydrogenase [NAD(P)+] activity", "id": "GO:0140169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140169", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" } ], "biological_process": [ { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "daunorubicin metabolic process", "id": "GO:0044597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044597", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "doxorubicin metabolic process", "id": "GO:0044598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044598", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" }, { "name": "progesterone metabolic process", "id": "GO:0042448", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042448", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q91WR5-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Gln222", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "N", "comment": "Decreases affinity for NADP. Changes enzyme activity, leading to the production of testosterone and concomitantly reducing the production of epi-testosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" }, { "database": "PubMed", "id": "20124700", "url": "https://glygen.org/publication/PubMed/20124700" } ] } ] }, { "uniprot_canonical_ac": "Q91WR5-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Tyr224", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Decreases affinity for NADP. Changes enzyme activity, leading to the production of testosterone and concomitantly reducing the production of epi-testosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" }, { "database": "PubMed", "id": "20124700", "url": "https://glygen.org/publication/PubMed/20124700" } ] }, { "sequence_org": "Y", "sequence_mut": "F", "comment": "No effect on enzyme activity. Decreases affinity for NADP.", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" }, { "database": "PubMed", "id": "20124700", "url": "https://glygen.org/publication/PubMed/20124700" } ] } ] }, { "uniprot_canonical_ac": "Q91WR5-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ala24", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "Y", "comment": "Reduces enzyme activity and affinity for substrate. Alters the stereospecificity, so that androstenedione is converted to testosterone.", "evidence": [ { "database": "UniProtKB", "id": "Q91WR5", "url": "https://www.uniprot.org/uniprotkb/Q91WR5" }, { "database": "PubMed", "id": "17034817", "url": "https://glygen.org/publication/PubMed/17034817" } ] } ] }, { "uniprot_canonical_ac": "Q91WR5-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Lys31", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on affinity for androstenedione. 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"https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "testosterone dehydrogenase (NADP+) activity", "id": "GO:0047045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047045", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "ketosteroid monooxygenase activity", "id": "GO:0047086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047086", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity", "id": "GO:0047115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047115", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "3-alpha-hydroxysteroid 3-dehydrogenase [NAD(P)+] activity", "id": "GO:0140169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140169", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "daunorubicin metabolic process", "id": "GO:0044597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044597", "evidence": [ { "database": "UniProtKB", "id": "Q8VC28", "url": "https://www.uniprot.org/uniprotkb/Q8VC28" } ], "pmid": "" }, { "name": "doxorubicin metabolic process", "id": "GO:0044598", "url": 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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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q8VCT3", "url": "https://www.uniprot.org/uniprotkb/Q8VCT3" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q8VCT3", "url": "https://www.uniprot.org/uniprotkb/Q8VCT3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VCT3", "url": "https://www.uniprot.org/uniprotkb/Q8VCT3" } ], "pmid": "" }, { 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endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that 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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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": 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"description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is 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"https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "ovarian follicle rupture", "id": "GO:0001543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001543", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of norepinephrine secretion", "id": "GO:0010701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010701", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "response to cold", "id": "GO:0009409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009409", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of blood pressure", "id": "GO:0045777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045777", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of renal output by angiotensin", "id": "GO:0002019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002019", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "maintenance of blood vessel diameter homeostasis by renin-angiotensin", "id": "GO:0002034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002034", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of systemic arterial blood pressure by circulatory renin-angiotensin", "id": "GO:0001991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001991", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "renin-angiotensin regulation of aldosterone production", "id": "GO:0002018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002018", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure", "id": "GO:0002033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002033", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "brain renin-angiotensin system", "id": "GO:0002035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002035", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "intracellular sodium ion homeostasis", "id": "GO:0006883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006883", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "aldosterone secretion", "id": "GO:0035932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035932", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "angiotensin-activated signaling pathway", "id": "GO:0038166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038166", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "vasoconstriction", "id": "GO:0042310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042310", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of neurotrophin TRK receptor signaling pathway", "id": "GO:0051387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051387", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of branching involved in ureteric bud morphogenesis", "id": "GO:0090190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090190", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "artery smooth muscle contraction", "id": "GO:0014824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014824", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "angiotensin-mediated drinking 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stress", "id": "GO:0009651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009651", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "hormone metabolic process", "id": "GO:0042445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042445", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of fatty acid biosynthetic process", "id": "GO:0045723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045723", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of insulin receptor signaling pathway", "id": "GO:0046628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046628", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "renal system process", "id": "GO:0003014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003014", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix constituent secretion", "id": "GO:0003331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003331", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell apoptotic process", "id": "GO:0010666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010666", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "response to muscle activity involved in regulation of muscle adaptation", "id": "GO:0014873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014873", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "negative regulation of tissue remodeling", "id": "GO:0034104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034104", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "smooth muscle cell proliferation", "id": "GO:0048659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048659", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "stress-activated MAPK cascade", "id": "GO:0051403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051403", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of transmission of nerve impulse", "id": "GO:0051969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051969", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "uterine smooth muscle contraction", "id": "GO:0070471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070471", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "regulation of extracellular matrix assembly", "id": "GO:1901201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901201", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of membrane hyperpolarization", "id": "GO:1902632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902632", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of L-lysine import across plasma membrane", "id": "GO:1905010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905010", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of L-arginine import across plasma membrane", "id": "GO:1905589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905589", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of cholesterol metabolic process", "id": "GO:0090205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090205", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "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": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "vasopressin secretion", "id": "GO:0030103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030103", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "positive regulation of protein kinase C activity", "id": "GO:1900020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900020", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "response to angiotensin", "id": "GO:1990776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990776", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "renal sodium ion absorption", "id": "GO:0070294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070294", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "angiotensin-mediated vasoconstriction involved in regulation of systemic arterial blood pressure", "id": "GO:0001998", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001998", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": "https://www.uniprot.org/uniprotkb/P11859" } ], "pmid": "" }, { "name": "renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure", "id": "GO:0001999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001999", "evidence": [ { "database": "UniProtKB", "id": "P11859", "url": 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"morphogenesis of an epithelial fold", "id": "GO:0060571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060571", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "lateral sprouting involved in mammary gland duct morphogenesis", "id": "GO:0060599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060599", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "prostate gland growth", "id": "GO:0060736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060736", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], 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binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "androgen binding", "id": "GO:0005497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005497", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "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": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "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": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P19091", "url": "https://www.uniprot.org/uniprotkb/P19091" } ], "pmid": 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"P62737-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 377, "chemical_mass": 42009.0, "gene_names": "Acta2;0610041G09Rik;Acta2;Actsa;Actvs;SMAalpha;SMalphaA;a-SMA;alphaSMA", "protein_name": "Actin, aortic smooth muscle", "disease": [ { "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. 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Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13832", "name": "patent ductus arteriosus", "description": "", "url": "https://disease-ontology.org/term/DOID:13832", "evidence": [ { "id": "13832", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13832" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:4977", "name": "lymphedema", "description": "A lymphatic system disease that is characterized by the abnormal accumulation of lymph fluid in the body's tissues, leading to swelling.", "url": "https://disease-ontology.org/term/DOID:4977", "evidence": [ { "id": "4977", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4977" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of hepatic stellate cell activation", "id": "GO:2000491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000491", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "muscle contraction", "id": "GO:0006936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "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": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "mesenchyme migration", "id": "GO:0090131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090131", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "vascular associated smooth muscle contraction", "id": "GO:0014829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014829", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "cellular response to transforming growth factor beta stimulus", "id": "GO:0071560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071560", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "glomerular mesangial cell development", "id": "GO:0072144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072144", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell migration", "id": "GO:0061870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061870", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "positive regulation of hepatic stellate cell contraction", "id": "GO:0061874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061874", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "juxtaglomerular apparatus development", "id": "GO:0072051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072051", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of cytoskeleton", "id": "GO:0005200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005200", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "stress fiber", "id": "GO:0001725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "filopodium", "id": "GO:0030175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030175", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "smooth muscle contractile fiber", "id": "GO:0030485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030485", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P62737", "url": "https://www.uniprot.org/uniprotkb/P62737" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62737-1", "start_pos": "14", "end_pos": "14", "site_lbl": "Asn14", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G76370VV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "MCEEEDSTALVCDNGSGLCKAGFAGDDAPR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 14, "start_aa": "Asn", "end_pos": 14, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn14", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P62737-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "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": 241, "start_aa": "Ser", "end_pos": 241, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser241", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P62737", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P62737" } ] } ] }, { "uniprot_canonical_ac": "P62737-1", "start_pos": "66", "end_pos": "66", "site_lbl": "Ile66", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (ILT->NLT).", "chr_id": "19", "chr_pos": "34229191", "evidence": [ { "id": "rs3389536423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389536423" } ] } ] } ], "record_id": "P62737-1" }, { "uniprot_canonical_ac": "P97802-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 145, "chemical_mass": 16696.0, "gene_names": "Ang3;Ang3;Angl;Ef-5;Rnase5c", "protein_name": "Angiogenin-3", "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": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:0060200", "name": "amyotrophic lateral sclerosis type 9", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14.", "url": "https://disease-ontology.org/term/DOID:0060200", "evidence": [ { "id": "0060200", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060200" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:13922", "name": "eosinophilic esophagitis", "description": "An esophagitis characterized by inflammation involving eosinophils located_in esophagus.", "url": 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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:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4085", "name": "trophoblastic neoplasm", "description": "A germ cell and embryonal cancer that derives_from trophoblastic tissue.", "url": "https://disease-ontology.org/term/DOID:4085", "evidence": [ { "id": "4085", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4085" } ], "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: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: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: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:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of translation in response to stress", "id": "GO:0032055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032055", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "response to yeast", "id": "GO:0001878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001878", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "antibacterial humoral response", "id": "GO:0019731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019731", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "antifungal humoral response", "id": "GO:0019732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019732", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "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": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "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": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "rRNA transcription", "id": "GO:0009303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009303", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "cellular response to stress", "id": "GO:0033554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033554", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "hematopoietic stem cell proliferation", "id": "GO:0071425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071425", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "stress granule assembly", "id": "GO:0034063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034063", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "cytoplasmic translation", "id": "GO:0002181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002181", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "tRNA stabilization", "id": "GO:0036416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036416", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "endonuclease activity", "id": "GO:0004519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004519", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "RNA nuclease activity", "id": "GO:0004540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004540", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "ribosome binding", "id": "GO:0043022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043022", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "tRNA-specific ribonuclease activity", "id": "GO:0004549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004549", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "endocytic vesicle", "id": "GO:0030139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030139", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "angiogenin-PRI complex", "id": "GO:0032311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032311", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "P97802", "url": "https://www.uniprot.org/uniprotkb/P97802" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P97802-1" }, { "uniprot_canonical_ac": "Q01337-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 458, "chemical_mass": 49906.0, "gene_names": "Adra2c;Adra-2c;Adra2c;[a]2C;alpha2-C4;alpha2C", "protein_name": "Alpha-2C adrenergic receptor", "disease": [ { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q01337", "url": "https://www.uniprot.org/uniprotkb/Q01337" } ], 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protein", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9D8B1", "url": "https://www.uniprot.org/uniprotkb/Q9D8B1" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D8B1", "url": "https://www.uniprot.org/uniprotkb/Q9D8B1" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9D8B1", "url": "https://www.uniprot.org/uniprotkb/Q9D8B1" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9D8B1", "url": "https://www.uniprot.org/uniprotkb/Q9D8B1" } ], "pmid": "" } ], 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"chr_pos": "68814574_68814575insTCCACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3389342189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389342189" } ] } ] } ], "record_id": "Q9R0X2-1" }, { "uniprot_canonical_ac": "Q9R144-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R144", "url": "https://www.uniprot.org/uniprotkb/Q9R144" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 448, "chemical_mass": 50476.0, "gene_names": "Prmt2;Hrmt1l1", "protein_name": "Protein arginine N-methyltransferase 2", "disease": [ { "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. 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hydroxylysine;O-galactosylation", "icn3d_view": {}, "start_pos": 76, "start_aa": "Lys", "end_pos": 76, "end_aa": "Lys", "residue": "Lys", "site_lbl": "Lys76", "evidence": [ { "id": "Q02105", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q02105#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q02105-1", "start_pos": "154", "end_pos": "154", "site_lbl": "Pro154", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "4", "chr_pos": "136617635", "evidence": [ { "id": "rs219045985", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219045985" } ] } ] }, { "uniprot_canonical_ac": "Q02105-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Tyr225", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NDY->NDC).", "chr_id": "4", "chr_pos": "136617421", "evidence": [ { "id": "rs3388717071", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388717071" } ] } ] } ], "record_id": "Q02105-1" }, { "uniprot_canonical_ac": "Q04211-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 158, "chemical_mass": 17682.0, "gene_names": "Btg2;APRO1;Btg2;Pc3;TIS21;Tis21", "protein_name": "Protein BTG2", "disease": [ { "disease_id": "DOID:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 } ], "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": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "protein methylation", "id": "GO:0006479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006479", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "positive regulation of nuclear-transcribed mRNA poly(A) tail shortening", "id": "GO:0060213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060213", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "central nervous system neuron development", "id": "GO:0021954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021954", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "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": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "negative regulation of neural precursor cell proliferation", "id": "GO:2000178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000178", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q04211-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Ser147", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ] } ] }, { "uniprot_canonical_ac": "Q04211-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Ser149", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q04211", "url": "https://www.uniprot.org/uniprotkb/Q04211" } ] } ] } ], "record_id": "Q04211-1" }, { "uniprot_canonical_ac": "Q2VLH6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1121, "chemical_mass": 120921.0, "gene_names": "Cd163;CD163v2;CD163v3;Cd163;M130", "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 } ], "molecular_function": [ { "name": "scavenger receptor activity", "id": "GO:0005044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" } ], "biological_process": [ { "name": "acute-phase response", "id": "GO:0006953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006953", "evidence": [ { "database": "UniProtKB", "id": "Q2VLH6", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "104", "end_pos": "104", "site_lbl": "Asn104", "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": 104, "start_aa": "Asn", "end_pos": 104, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn104", "evidence": [ { "id": "Q2VLH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asn138", "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": 138, "start_aa": "Asn", "end_pos": 138, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn138", "evidence": [ { "id": "Q2VLH6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q2VLH6#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LAGGENNCSGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Asn834", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2428", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2428" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2428", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2428" } ] }, { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "LTNEAHKENCTGR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 834, "start_aa": "Asn", "end_pos": 834, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn834", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q2VLH6-1", "start_pos": "872", "end_pos": "872", "site_lbl": "Asn872", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49018RC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QLGCADNGTVKPIPSDK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 872, "start_aa": "Asn", "end_pos": 872, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn872", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] } ], "record_id": "Q2VLH6-1" }, { "uniprot_canonical_ac": "Q3KQP7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 186, "chemical_mass": 21131.0, "gene_names": "1700028K03Rik;Spo16;1700028K03Rik;SCRE;Scre;Spo16", "protein_name": "Protein SPO16 homolog", "disease": [], "biological_process": [ { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "pmid": "" }, { "name": "reciprocal meiotic recombination", "id": "GO:0007131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007131", "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "pmid": "" } ], "cellular_component": [ { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q3KQP7", "url": "https://www.uniprot.org/uniprotkb/Q3KQP7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3KQP7-1" }, { "uniprot_canonical_ac": "Q3URV1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1296, "chemical_mass": 148061.0, "gene_names": "Tbc1d32;Bromi;C6orf170;D630037F22Rik;Tbc1d32;b2b2284Clo", "protein_name": "Protein broad-minded", "disease": [ { "disease_id": "DOID:0050545", "name": "visceral heterotaxy", "description": "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.", "url": "https://disease-ontology.org/term/DOID:0050545", "evidence": [ { "id": "0050545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050545" } ], "weight": 0.0 }, { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "disease_id": "DOID:0060382", "name": "orofaciodigital syndrome IX", "description": "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.", "url": "https://disease-ontology.org/term/DOID:0060382", "evidence": [ { "id": "0060382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060382" } ], "weight": 0.0 }, { "disease_id": "DOID:14679", "name": "VACTERL association", "description": "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.", "url": "https://disease-ontology.org/term/DOID:14679", "evidence": [ { "id": "14679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14679" } ], "weight": 0.0 }, { "disease_id": "DOID:1935", "name": "Bardet-Biedl syndrome", "description": "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.", "url": "https://disease-ontology.org/term/DOID:1935", "evidence": [ { "id": "1935", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1935" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "neural tube patterning", "id": "GO:0021532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021532", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "protein localization to cilium", "id": "GO:0061512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "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": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "Q3URV1", "url": "https://www.uniprot.org/uniprotkb/Q3URV1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q3URV1-1" }, { "uniprot_canonical_ac": "Q3UZ09-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 482, "chemical_mass": 53435.0, "gene_names": "C1rl;C1r-LP;C1rl1;C1rlp;C1rl", "protein_name": "Complement C1r subcomponent-like protein", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "Q3UZ09", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UZ09-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Asn358", "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": 358, "start_aa": "Asn", "end_pos": 358, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn358", "evidence": [ { "id": "Q3UZ09", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q3UZ09#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q3UZ09-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Asn293", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NQN->NQS).", "chr_id": "6", "chr_pos": "124485508", "evidence": [ { "id": "rs51548521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51548521" } ] } ] } ], "record_id": "Q3UZ09-1" }, { "uniprot_canonical_ac": "Q497N6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q497N6", "url": "https://www.uniprot.org/uniprotkb/Q497N6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 533, "chemical_mass": 61957.0, "gene_names": "Cep295nl;Cep295nl;Ddc8;FS39;Kiaa1731nl", "protein_name": "CEP295 N-terminal-like protein", "disease": [], "cellular_component": [ { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q497N6", "url": 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q497N6-1" }, { "uniprot_canonical_ac": "Q4KKZ1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q4KKZ1", "url": "https://www.uniprot.org/uniprotkb/Q4KKZ1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 196, "chemical_mass": 23026.0, "gene_names": "Cfap107;1700012P22Rik;Cfap107", "protein_name": "Cilia- and flagella-associated protein 107", "disease": [], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "Q4KKZ1", "url": "https://www.uniprot.org/uniprotkb/Q4KKZ1" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": 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"url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "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": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "neuron cell-cell adhesion", "id": "GO:0007158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007158", "evidence": [ { "database": "UniProtKB", "id": "P61809", "url": "https://www.uniprot.org/uniprotkb/P61809" } ], "pmid": "" }, { "name": "superior olivary nucleus maturation", "id": "GO:0021722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021722", "evidence": [ { "database": 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response to iron ion", "id": "GO:0071281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071281", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" }, { "name": "positive regulation of T cell proliferation", "id": "GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" }, { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" }, { "name": 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"pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": "https://www.uniprot.org/uniprotkb/Q62351" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62351", "url": 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"site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 788, "start_aa": "Asn", "end_pos": 788, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn788", "evidence": [ { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" }, { "id": "2754", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2754" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 788, "start_aa": "Asn", "end_pos": 788, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn788", "evidence": [ { "id": "Q80YX1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q80YX1#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Thr80", "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": 80, "start_aa": "Thr", "end_pos": 80, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr80", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YX1", "url": "https://www.uniprot.org/uniprotkb/Q80YX1" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "70", "end_pos": "70", "site_lbl": "Ser70", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YX1", "url": "https://www.uniprot.org/uniprotkb/Q80YX1" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "905", "end_pos": "905", "site_lbl": "Thr905", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80YX1", "url": "https://www.uniprot.org/uniprotkb/Q80YX1" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1121", "end_pos": "1121", "site_lbl": "Thr1121", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NFT->NFR); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919060", "evidence": [ { "id": "rs3388678480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678480" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1868", "end_pos": "1868", "site_lbl": "Ser1868", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SGS->NGS); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63885498", "evidence": [ { "id": "rs256631933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256631933" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Lys797", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KVT->NVT); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63931318", "evidence": [ { "id": "rs3388683815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683815" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "908", "end_pos": "908", "site_lbl": "Ser908", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SIT->NIT); glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63926056", "evidence": [ { "id": "rs27903972", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903972" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1004", "end_pos": "1004", "site_lbl": "Phe1004", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63924686", "evidence": [ { "id": "rs246212677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246212677" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1044", "end_pos": "1044", "site_lbl": "Glu1044", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63924567", "evidence": [ { "id": "rs3388683770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683770" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1054", "end_pos": "1054", "site_lbl": "Ile1054", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63924536", "evidence": [ { "id": "rs27903991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903991" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Asn105", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938523", "evidence": [ { "id": "rs3388687577", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687577" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1083", "end_pos": "1083", "site_lbl": "Thr1083", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919175", "evidence": [ { "id": "rs27904045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27904045" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1135", "end_pos": "1135", "site_lbl": "Lys1135", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919019", "evidence": [ { "id": "rs3388693340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693340" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Val1136", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63919015", "evidence": [ { "id": "rs225874526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225874526" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1142", "end_pos": "1142", "site_lbl": "Val1142", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918997", "evidence": [ { "id": "rs3388694176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388694176" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1148", "end_pos": "1148", "site_lbl": "Ala1148", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918979", "evidence": [ { "id": "rs3388694217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388694217" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1149", "end_pos": "1149", "site_lbl": "Arg1149", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918976", "evidence": [ { "id": "rs3542341300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542341300" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1159", "end_pos": "1159", "site_lbl": "Glu1159", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918947", "evidence": [ { "id": "rs27904046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27904046" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1160", "end_pos": "1160", "site_lbl": "Thr1160", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918943", "evidence": [ { "id": "rs3394386938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394386938" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1221", "end_pos": "1221", "site_lbl": "Asp1221", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918249", "evidence": [ { "id": "rs3388678412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678412" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1223", "end_pos": "1223", "site_lbl": "Pro1223", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918243", "evidence": [ { "id": "rs258835162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258835162" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1244", "end_pos": "1244", "site_lbl": "Thr1244", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63918179", "evidence": [ { "id": "rs5526679634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526679634" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1255", "end_pos": "1255", "site_lbl": "Asp1255", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63914046", "evidence": [ { "id": "rs3542351298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542351298" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1295", "end_pos": "1295", "site_lbl": "Asn1295", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913928", "evidence": [ { "id": "rs3388684834", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684834" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1299", "end_pos": "1299", "site_lbl": "Ala1299", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913916", "evidence": [ { "id": "rs27904065", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27904065" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1309", "end_pos": "1309", "site_lbl": "Arg1309", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913884", "evidence": [ { "id": "rs3388684879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684879" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Glu130", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938448", "evidence": [ { "id": "rs3388693267", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693267" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1312", "end_pos": "1312", "site_lbl": "Asp1312", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913876", "evidence": [ { "id": "rs3388684821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684821" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1336", "end_pos": "1336", "site_lbl": "Pro1336", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63913804", "evidence": [ { "id": "rs214277777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214277777" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1370", "end_pos": "1370", "site_lbl": "Thr1370", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63911462", "evidence": [ { "id": "rs212624458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212624458" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Thr141", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938416", "evidence": [ { "id": "rs3388683773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683773" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1449", "end_pos": "1449", "site_lbl": "Thr1449", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902930", "evidence": [ { "id": "rs3413055726", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413055726" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1459", "end_pos": "1459", "site_lbl": "Thr1459", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902900", "evidence": [ { "id": "rs3388683755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683755" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1464", "end_pos": "1464", "site_lbl": "Ala1464", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902886", "evidence": [ { "id": "rs3388692285", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692285" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1473", "end_pos": "1473", "site_lbl": "Val1473", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902859", "evidence": [ { "id": "rs3388687679", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687679" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1485", "end_pos": "1485", "site_lbl": "Thr1485", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902822", "evidence": [ { "id": "rs27919103", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27919103" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Tyr1504", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902765", "evidence": [ { "id": "rs3388679144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679144" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1514", "end_pos": "1514", "site_lbl": "Gly1514", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902736", "evidence": [ { "id": "rs3388685263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685263" } ] }, { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902736", "evidence": [ { "id": "rs3388685263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685263" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1521", "end_pos": "1521", "site_lbl": "Arg1521", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63902713", "evidence": [ { "id": "rs3394341843", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394341843" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1532", "end_pos": "1532", "site_lbl": "Val1532", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901145", "evidence": [ { "id": "rs3393811835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393811835" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1547", "end_pos": "1547", "site_lbl": "Leu1547", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901100", "evidence": [ { "id": "rs3388690527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690527" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1550", "end_pos": "1550", "site_lbl": "Thr1550", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901091", "evidence": [ { "id": "rs3394064534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394064534" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1566", "end_pos": "1566", "site_lbl": "Thr1566", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901043", "evidence": [ { "id": "rs235089092", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235089092" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Lys1568", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901038", "evidence": [ { "id": "rs3388693334", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693334" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1576", "end_pos": "1576", "site_lbl": "Ser1576", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63901014", "evidence": [ { "id": "rs219264290", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219264290" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1604", "end_pos": "1604", "site_lbl": "Arg1604", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63900929", "evidence": [ { "id": "rs5526653273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526653273" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1614", "end_pos": "1614", "site_lbl": "Ile1614", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63900899", "evidence": [ { "id": "rs5526653269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526653269" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1622", "end_pos": "1622", "site_lbl": "Pro1622", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894793", "evidence": [ { "id": "rs3394337773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394337773" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1629", "end_pos": "1629", "site_lbl": "Asp1629", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894771", "evidence": [ { "id": "rs3393811895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393811895" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1638", "end_pos": "1638", "site_lbl": "Ser1638", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894745", "evidence": [ { "id": "rs253284398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253284398" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1643", "end_pos": "1643", "site_lbl": "Thr1643", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894730", "evidence": [ { "id": "rs3542381686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542381686" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1652", "end_pos": "1652", "site_lbl": "Thr1652", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63894703", "evidence": [ { "id": "rs3388687632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687632" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1671", "end_pos": "1671", "site_lbl": "Thr1671", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893546", "evidence": [ { "id": "rs3388688675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688675" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1672", "end_pos": "1672", "site_lbl": "Glu1672", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893543", "evidence": [ { "id": "rs264514386", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264514386" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1685", "end_pos": "1685", "site_lbl": "Arg1685", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893504", "evidence": [ { "id": "rs219369593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219369593" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1686", "end_pos": "1686", "site_lbl": "Val1686", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893502", "evidence": [ { "id": "rs3542414166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542414166" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1691", "end_pos": "1691", "site_lbl": "Met1691", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63893487", "evidence": [ { "id": "rs250326945", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250326945" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1724", "end_pos": "1724", "site_lbl": "Ala1724", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63890983", "evidence": [ { "id": "rs3388683778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683778" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1833", "end_pos": "1833", "site_lbl": "Val1833", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63888568", "evidence": [ { "id": "rs3388683736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683736" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1891", "end_pos": "1891", "site_lbl": "Arg1891", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63884876", "evidence": [ { "id": "rs3388687740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687740" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Asp189", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936369", "evidence": [ { "id": "rs3413002758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413002758" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1936", "end_pos": "1936", "site_lbl": "Leu1936", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63883910", "evidence": [ { "id": "rs3388693303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693303" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "1981", "end_pos": "1981", "site_lbl": "Leu1981", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882952", "evidence": [ { "id": "rs3388693276", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693276" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2000", "end_pos": "2000", "site_lbl": "Ser2000", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882894", "evidence": [ { "id": "rs214964861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214964861" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2008", "end_pos": "2008", "site_lbl": "Tyr2008", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882869", "evidence": [ { "id": "rs3388688650", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688650" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2009", "end_pos": "2009", "site_lbl": "Lys2009", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882868", "evidence": [ { "id": "rs3388669525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669525" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Ala2019", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63882837", "evidence": [ { "id": "rs3388690922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690922" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2027", "end_pos": "2027", "site_lbl": "Asn2027", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63880367", "evidence": [ { "id": "rs3388687705", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687705" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2055", "end_pos": "2055", "site_lbl": "Tyr2055", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63880282", "evidence": [ { "id": "rs3388692294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692294" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2063", "end_pos": "2063", "site_lbl": "Leu2063", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63880259", "evidence": [ { "id": "rs3388678467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678467" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "2080", "end_pos": "2080", "site_lbl": "His2080", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63878763", "evidence": [ { "id": "rs3394366350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394366350" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Gly248", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936192", "evidence": [ { "id": "rs27903909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903909" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "259", "end_pos": "259", "site_lbl": "Glu259", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936158", "evidence": [ { "id": "rs251952318", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251952318" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "260", "end_pos": "260", "site_lbl": "His260", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936157", "evidence": [ { "id": "rs3388684863", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684863" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Glu308", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63936012", "evidence": [ { "id": "rs3388693357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693357" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Ile326", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935959", "evidence": [ { "id": "rs254361473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254361473" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Glu334", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935934", "evidence": [ { "id": "rs3388683807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683807" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Asp349", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935890", "evidence": [ { "id": "rs3388679174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679174" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Gln360", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935855", "evidence": [ { "id": "rs3388688674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688674" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Cys381", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935793", "evidence": [ { "id": "rs3388686584", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686584" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Asn410", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935706", "evidence": [ { "id": "rs27903911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903911" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Ser413", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935697", "evidence": [ { "id": "rs27903912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903912" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Val450", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935586", "evidence": [ { "id": "rs3388687736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687736" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Phe460", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935557", "evidence": [ { "id": "rs3388690516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690516" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Asp495", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935450", "evidence": [ { "id": "rs3388688676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688676" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Pro502", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935431", "evidence": [ { "id": "rs3388688696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388688696" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Gln515", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935392", "evidence": [ { "id": "rs3388693294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388693294" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Thr523", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935367", "evidence": [ { "id": "rs27903916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903916" } ] }, { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935367", "evidence": [ { "id": "rs27903916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903916" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Ile53", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938681", "evidence": [ { "id": "rs256596814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256596814" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Gln546", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935298", "evidence": [ { "id": "rs3388679124", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388679124" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Cys558", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935262", "evidence": [ { "id": "rs3388690942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690942" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Lys559", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935259", "evidence": [ { "id": "rs3388669541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388669541" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Asp566", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935237", "evidence": [ { "id": "rs27903917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903917" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Ile579", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935200", "evidence": [ { "id": "rs3388687758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687758" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "586", "end_pos": "586", "site_lbl": "Gly586", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935178", "evidence": [ { "id": "rs3413155275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413155275" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "598", "end_pos": "598", "site_lbl": "Cys598", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935143", "evidence": [ { "id": "rs3388683802", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683802" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Pro59", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938662", "evidence": [ { "id": "rs3388687591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687591" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "603", "end_pos": "603", "site_lbl": "Gln603", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935127", "evidence": [ { "id": "rs3388687593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687593" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "60", "end_pos": "60", "site_lbl": "Met60", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938658", "evidence": [ { "id": "rs27903895", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27903895" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "617", "end_pos": "617", "site_lbl": "Gly617", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63935086", "evidence": [ { "id": "rs3388690469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388690469" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "61", "end_pos": "61", "site_lbl": "Gly61", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63938656", "evidence": [ { "id": "rs3388692203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388692203" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ile630", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933375", "evidence": [ { "id": "rs3388687671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388687671" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "636", "end_pos": "636", "site_lbl": "Glu636", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "VSSVT*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933356_63933357insAAGTAACAGAGG", "evidence": [ { "id": "rs3394367534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394367534" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Val639", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933348", "evidence": [ { "id": "rs3388686596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686596" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "654", "end_pos": "654", "site_lbl": "Ile654", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933302", "evidence": [ { "id": "rs3413158153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413158153" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "657", "end_pos": "657", "site_lbl": "Thr657", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933293", "evidence": [ { "id": "rs3388686617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388686617" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "673", "end_pos": "673", "site_lbl": "Asp673", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933245", "evidence": [ { "id": "rs3410297702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3410297702" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933246", "evidence": [ { "id": "rs3394367496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394367496" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "675", "end_pos": "675", "site_lbl": "Thr675", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933240", "evidence": [ { "id": "rs3394294492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394294492" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Arg680", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933224", "evidence": [ { "id": "rs216820440", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216820440" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Arg700", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933165", "evidence": [ { "id": "rs3394323389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394323389" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "702", "end_pos": "702", "site_lbl": "Ile702", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933158", "evidence": [ { "id": "rs3394183875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394183875" } ] } ] }, { "uniprot_canonical_ac": "Q80YX1-1", "start_pos": "704", "end_pos": "704", "site_lbl": "Val704", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "63933152", "evidence": [ { "id": "rs3394183869", "database": "dbSNP", 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"evidence": [ { "database": "UniProtKB", "id": "Q9DC40", "url": "https://www.uniprot.org/uniprotkb/Q9DC40" } ] } ] }, { "uniprot_canonical_ac": "Q9DC40-1", "start_pos": "837", "end_pos": "837", "site_lbl": "Ser837", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9DC40", "url": "https://www.uniprot.org/uniprotkb/Q9DC40" } ] } ] }, { "uniprot_canonical_ac": "Q9DC40-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Leu395", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Does not inhibit interaction with TTI1 or TTI2. 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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526819055" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "208", "end_pos": "208", "site_lbl": "His208", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119092590", "evidence": [ { "id": "rs216354237", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216354237" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Tyr238", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094058", "evidence": [ { "id": "rs3388685571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685571" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Val23", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119090221", "evidence": [ { "id": "rs244868912", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244868912" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Glu244", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094076", "evidence": [ { "id": "rs229608925", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229608925" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Asp254", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094106", "evidence": [ { "id": "rs3388685600", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388685600" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Asp256", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119094114", "evidence": [ { "id": "rs3388708542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708542" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Thr287", "weight": 0.0, "snv": [ { "sequence_org": "T", 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"uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "449", "end_pos": "449", "site_lbl": "Thr449", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119098993", "evidence": [ { "id": "rs3388705503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388705503" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Ser48", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119090295", "evidence": [ { "id": "rs51055369", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51055369" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Val548", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119102217", "evidence": [ { "id": "rs3388709711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388709711" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Ser578", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103834", "evidence": [ { "id": "rs5526822993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526822993" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "585", "end_pos": "585", "site_lbl": "Ser585", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103834", "evidence": [ { "id": "rs5526822993", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5526822993" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Glu599", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "4", "chr_pos": "119103897", "evidence": [ { "id": "rs3388702493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388702493" } ] } ] }, { "uniprot_canonical_ac": "Q3V1T4-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Ile604", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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} ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "calcium-dependent cysteine-type endopeptidase activity", "id": "GO:0004198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004198", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], 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"https://www.ebi.ac.uk/QuickGO/term/GO:0055103", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" } ], "biological_process": [ { "name": "sodium-dependent self proteolysis", "id": "GO:1990091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990091", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "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": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "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": "Q64691", "url": "https://www.uniprot.org/uniprotkb/Q64691" } ], "pmid": "" }, { "name": "positive regulation of release of 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"comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64029466", "evidence": [ { "id": "rs3400490933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400490933" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Val18", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64025067", "evidence": [ { "id": "rs3389000028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000028" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Thr203", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", 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"C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64034216", "evidence": [ { "id": "rs3389046005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389046005" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "305", "end_pos": "305", "site_lbl": "His305", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64034277", "evidence": [ { "id": "rs242250452", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242250452" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Leu320", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"64039102", "evidence": [ { "id": "rs223317425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223317425" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Asp403", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040099", "evidence": [ { "id": "rs3389050126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050126" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Thr409", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040116", "evidence": [ { "id": "rs3389020354", "database": "dbSNP", "url": 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"weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040479", "evidence": [ { "id": "rs235364707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235364707" } ] } ] }, { "uniprot_canonical_ac": "Q8K1F9-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Val490", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040527", "evidence": [ { "id": "rs212911546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212911546" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "64040526", "evidence": [ { "id": 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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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. 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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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q8VCC6", "url": "https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q8VCC6", "url": "https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "Q8VCC6", "url": "https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" }, { "name": "negative regulation of homotypic cell-cell adhesion", "id": "GO:0034111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034111", "evidence": [ { "database": "UniProtKB", "id": "Q8VCC6", "url": "https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" }, { "name": "cardiac muscle tissue growth", "id": "GO:0055017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055017", "evidence": [ { "database": "UniProtKB", "id": "Q8VCC6", "url": "https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" }, { "name": "positive regulation of fibroblast growth factor production", "id": "GO:0090271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090271", "evidence": [ { "database": "UniProtKB", "id": "Q8VCC6", "url": "https://www.uniprot.org/uniprotkb/Q8VCC6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VCC6-1" }, { "uniprot_canonical_ac": "Q9JIS7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1985, "chemical_mass": 221926.0, "gene_names": "Cacna1f", "protein_name": "Voltage-dependent L-type calcium channel subunit alpha-1F", "disease": [ { "disease_id": "DOID:0050534", "name": "congenital stationary night blindness", "description": "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves.", "url": "https://disease-ontology.org/term/DOID:0050534", "evidence": [ { "id": "0050534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050534" } ], "weight": 0.0 }, { "disease_id": "DOID:0050630", "name": "Aland Island eye disease", "description": "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene.", "url": "https://disease-ontology.org/term/DOID:0050630", "evidence": [ { "id": "0050630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050630" } ], "weight": 0.0 }, { "disease_id": "DOID:0060173", "name": "Timothy syndrome", "description": "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene.", "url": "https://disease-ontology.org/term/DOID:0060173", "evidence": [ { "id": "0060173", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060173" } ], "weight": 0.0 }, { "disease_id": "DOID:0110871", "name": "congenital stationary night blindness 2A", "description": "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.", "url": "https://disease-ontology.org/term/DOID:0110871", "evidence": [ { "id": "0110871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110871" } ], "weight": 0.0 }, { "disease_id": "DOID:0111007", "name": "X-linked cone-rod dystrophy 3", "description": "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.", "url": "https://disease-ontology.org/term/DOID:0111007", "evidence": [ { "id": "0111007", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111007" } ], "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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "voltage-gated calcium channel complex", "id": "GO:0005891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005891", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" } ], "biological_process": [ { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "negative regulation of voltage-gated calcium channel activity", "id": "GO:1901386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901386", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "system process", "id": "GO:0003008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003008", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "voltage-gated calcium channel activity", "id": "GO:0005245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005245", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" }, { "name": "high voltage-gated calcium channel activity", "id": "GO:0008331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008331", "evidence": [ { "database": "UniProtKB", "id": "Q9JIS7", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9JIS7-1", "start_pos": "1718", "end_pos": "1718", "site_lbl": "Ser1718", "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": 1718, "start_aa": "Ser", "end_pos": 1718, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1718", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q9JIS7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JIS7" } ] } ] }, { "uniprot_canonical_ac": "Q9JIS7-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "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": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "B1AVA4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/B1AVA4#ptm_processing" }, { "id": "PIRSR602077-3", "database": "PIR Site Rule", "url": "https://www.uniprot.org/unirule/PIRSR602077-3" }, { "id": "Q9JIS7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9JIS7#ptm_processing" }, { "id": "S4R182", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/S4R182#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q9JIS7-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Thr47", "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": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 47, "start_aa": "Thr", "end_pos": 47, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr47", "evidence": [ { "id": "34418053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34418053" }, { "id": "Q9JIS7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9JIS7" } ] } ] } ], "record_id": "Q9JIS7-1" }, { "uniprot_canonical_ac": "Q9ES70-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 313, "chemical_mass": 35742.0, "gene_names": "Nek6;1300007C09Rik;Nek6", "protein_name": "Serine/threonine-protein kinase Nek6", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "kinesin binding", "id": "GO:0019894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019894", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": "https://www.uniprot.org/uniprotkb/Q9ES70" } ], "pmid": "" } ], "cellular_component": [ { "name": "spindle pole", "id": "GO:0000922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000922", "evidence": [ { "database": "UniProtKB", "id": "Q9ES70", "url": 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"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:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "nociceptin receptor activity", "id": "GO:0001626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001626", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "neuropeptide binding", "id": "GO:0042923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042923", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of locomotor rhythm", "id": "GO:1904059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904059", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "id": "GO:0007193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007193", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "behavioral response to nicotine", "id": "GO:0035095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035095", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "cellular response to ethanol", "id": "GO:0071361", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071361", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "neuron-neuron synaptic transmission", "id": "GO:0007270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007270", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "response to immobilization stress", "id": "GO:0035902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035902", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "negative regulation of voltage-gated calcium channel activity", "id": "GO:1901386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901386", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, GABAergic", "id": "GO:0032228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032228", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "conditioned place preference", "id": "GO:1990708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990708", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0106072", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "synaptic membrane", "id": "GO:0097060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097060", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P35377", "url": "https://www.uniprot.org/uniprotkb/P35377" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35377-1", "start_pos": "21", "end_pos": "21", "site_lbl": "Asn21", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", 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"id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "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:0051065", "name": "chronic pancreatitis", "description": "A pancreatitis that is characterized by long-term inflamation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:0051065", "evidence": [ { "id": "0051065", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051065" } ], "weight": 0.0 }, { "disease_id": "DOID:0060001", "name": "withdrawal disorder", "description": "A substance-related disorder that occurs 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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: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:12143", "name": "neurogenic bladder", "description": "", "url": "https://disease-ontology.org/term/DOID:12143", "evidence": [ { "id": "12143", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12143" } ], "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: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:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:431", "name": "myofascial pain syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:431", "evidence": [ { "id": "431", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:431" } ], "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: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:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc.", "url": "https://disease-ontology.org/term/DOID:90", "evidence": [ { "id": "90", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:90" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:9505", "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9975", "name": "cocaine dependence", "description": "A drug dependence that is a psychological dependency on the regular use of cocaine.", "url": "https://disease-ontology.org/term/DOID:9975", "evidence": [ { "id": "9975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9975" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of stem cell proliferation", "id": "GO:2000648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000648", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "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": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "sensory perception of pain", "id": "GO:0019233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019233", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "positive regulation of neurotrophin TRK receptor signaling pathway", "id": "GO:0051388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051388", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": "https://www.uniprot.org/uniprotkb/P01139" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P01139", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246813200" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "215", "end_pos": "215", "site_lbl": "His215", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92199843", "evidence": [ { "id": "rs246813200", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246813200" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Thr240", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198175", "evidence": [ { "id": "rs3388573813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388573813" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Val248", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198151", "evidence": [ { "id": "rs3388572755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572755" } ] }, { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198151", "evidence": [ { "id": "rs3388572755", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572755" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Met258", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198122", "evidence": [ { "id": "rs3388575564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388575564" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Asp264", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92198103", "evidence": [ { "id": "rs3391873913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391873913" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ala270", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197996", "evidence": [ { "id": "rs3388574801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574801" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "306", "end_pos": "306", "site_lbl": "Leu306", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197889", "evidence": [ { "id": "rs3391952013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391952013" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Lys307", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197886", "evidence": [ { "id": "rs3391747583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391747583" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Val308", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197768", "evidence": [ { "id": "rs3388567656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567656" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "315", "end_pos": "315", "site_lbl": "Lys315", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197746", "evidence": [ { "id": "rs3388564412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564412" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Lys322", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197726", "evidence": [ { "id": "rs3388567622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567622" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "340", "end_pos": "340", "site_lbl": "Lys340", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197746", "evidence": [ { "id": "rs3388564412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564412" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "379", "end_pos": "379", "site_lbl": "Gln379", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92197464", "evidence": [ { "id": "rs3388572824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572824" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Thr41", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200988", "evidence": [ { "id": "rs3388567222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567222" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Arg422", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196916", "evidence": [ { "id": "rs3507679759", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507679759" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "423", "end_pos": "423", "site_lbl": "His423", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196911", "evidence": [ { "id": "rs3391889497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391889497" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "426", "end_pos": "426", "site_lbl": "Gly426", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196904", "evidence": [ { "id": "rs3388574737", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574737" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Ser429", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196894", "evidence": [ { "id": "rs3388570270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388570270" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Arg455", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196816", "evidence": [ { "id": "rs3388572150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572150" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Tyr464", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196790", "evidence": [ { "id": "rs3391891067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391891067" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Asp466", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196784", "evidence": [ { "id": "rs3391951877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391951877" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Gly467", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196781", "evidence": [ { "id": "rs3388564420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564420" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Pro46", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200972", "evidence": [ { "id": "rs265535761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265535761" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Gln474", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196758", "evidence": [ { "id": "rs247521494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247521494" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Leu475", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196757", "evidence": [ { "id": "rs3388571307", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571307" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Val488", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196717", "evidence": [ { "id": "rs3388567243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567243" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "48", "end_pos": "48", "site_lbl": "Arg48", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92200967", "evidence": [ { "id": "rs244322535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244322535" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Ser516", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196384", "evidence": [ { "id": "rs3388564505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388564505" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Leu547", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196292", "evidence": [ { "id": "rs3388571611", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571611" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Thr567", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196136", "evidence": [ { "id": "rs3388572155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388572155" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Glu574", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196115", "evidence": [ { "id": "rs3388574844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574844" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "578", "end_pos": "578", "site_lbl": "Pro578", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196103", "evidence": [ { "id": "rs3388575604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388575604" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196097", "evidence": [ { "id": "rs13463269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13463269" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Gln582", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196090", "evidence": [ { "id": "rs3391898842", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391898842" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "595", "end_pos": "595", "site_lbl": "Arg595", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196051", "evidence": [ { "id": "rs3388571664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388571664" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Pro602", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196030", "evidence": [ { "id": "rs3388567643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388567643" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "611", "end_pos": "611", "site_lbl": "Lys611", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92196002", "evidence": [ { "id": "rs212388460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs212388460" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "616", "end_pos": "616", "site_lbl": "Ile616", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", "chr_pos": "92195989", "evidence": [ { "id": "rs3388574717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388574717" } ] } ] }, { "uniprot_canonical_ac": "Q5XPT3-1", "start_pos": "650", "end_pos": "650", "site_lbl": "Ser650", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "2", 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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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}, { "name": "positive regulation of nitric-oxide synthase activity", "id": "GO:0051000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051000", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "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": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": 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"database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell antigen processing and presentation", "id": "GO:0002606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002606", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "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": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "positive regulation of xenophagy", "id": "GO:1904417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904417", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" } ], "molecular_function": [ { "name": "peptidoglycan binding", "id": "GO:0042834", 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"evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q8BHB0", "url": "https://www.uniprot.org/uniprotkb/Q8BHB0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8BHB0-1" }, { "uniprot_canonical_ac": "P15409-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P15409", "url": "https://www.uniprot.org/uniprotkb/P15409" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 348, "chemical_mass": 39070.0, "gene_names": "Rho;Noerg1;Opn2;Ops;RP4;Rho", "protein_name": "Rhodopsin", "disease": [ { "disease_id": "DOID:0110372", "name": "retinitis pigmentosa 4", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22.", "url": "https://disease-ontology.org/term/DOID:0110372", "evidence": [ { "id": "0110372", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110372" } ], "weight": 0.0 }, { "disease_id": "DOID:0110862", "name": "congenital stationary night blindness autosomal dominant 1", "description": "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1.", "url": "https://disease-ontology.org/term/DOID:0110862", "evidence": [ { "id": "0110862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110862" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": 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"https://www.alliancegenome.org/disease/DOID:0050777" } ], "weight": 0.0 }, { "disease_id": "DOID:0050778", "name": "Meckel syndrome", "description": "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia.", "url": "https://disease-ontology.org/term/DOID:0050778", "evidence": [ { "id": "0050778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050778" } ], "weight": 0.0 }, { "disease_id": "DOID:0060340", "name": "ciliopathy", "description": "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia.", "url": "https://disease-ontology.org/term/DOID:0060340", "evidence": [ { "id": "0060340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060340" } ], "weight": 0.0 }, { "disease_id": "DOID:0061105", "name": "retinitis pigmentosa 93", "description": "A retinitis pigmentosa characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Patients have constricted visual fields with macular sparing and show mildly reduced visual acuity with mild to high myopia that has_material_basis_in compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.", "url": "https://disease-ontology.org/term/DOID:0061105", "evidence": [ { "id": "0061105", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061105" } ], "weight": 0.0 }, { "disease_id": "DOID:0070120", "name": "Meckel syndrome 6", "description": "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32.", "url": "https://disease-ontology.org/term/DOID:0070120", "evidence": [ { "id": "0070120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070120" } ], "weight": 0.0 }, { "disease_id": "DOID:0111004", "name": "Joubert syndrome 9", "description": "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15.", "url": "https://disease-ontology.org/term/DOID:0111004", "evidence": [ { "id": "0111004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111004" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "MKS complex", "id": "GO:0036038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036038", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "motile cilium assembly", "id": "GO:0044458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044458", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "axoneme assembly", "id": "GO:0035082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "protein localization to ciliary transition zone", "id": "GO:1904491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904491", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "embryonic brain development", "id": "GO:1990403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990403", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q8CFW7", "url": "https://www.uniprot.org/uniprotkb/Q8CFW7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8CFW7-1", "start_pos": "1409", "end_pos": "1409", "site_lbl": "Thr1409", "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": 1409, "start_aa": "Thr", "end_pos": 1409, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1409", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CFW7-1", "start_pos": "626", "end_pos": "626", "site_lbl": "Thr626", "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": 626, "start_aa": "Thr", "end_pos": 626, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr626", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q8CFW7-1", "start_pos": "1227", "end_pos": "1227", "site_lbl": "Ile1227", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "5", "chr_pos": "43883605", "evidence": [ { "id": "rs3395135944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395135944" } ] } ] } ], "record_id": "Q8CFW7-1" }, { "uniprot_canonical_ac": "Q8CJ91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 325, "chemical_mass": 37112.0, "gene_names": "Cd209b;1810030I22Rik;Cd209b;DC-SIGNR1;OtB7;SIGNR1;mSIGNR1", "protein_name": "CD209 antigen-like protein B", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "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: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: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: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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "molecular_function": [ { "name": "polysaccharide binding", "id": "GO:0030247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030247", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q8CJ91", "url": "https://www.uniprot.org/uniprotkb/Q8CJ91" } ], "pmid": "" }, { "name": "(1->3)-beta-D-glucan binding", "id": "GO:0001872", "url": 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"uniprot_canonical_ac": "Q9Z0F0-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Arg346", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "34169200", "evidence": [ { "id": "rs3552834013", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552834013" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0F0-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ala348", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "34169194", "evidence": [ { "id": "rs3553058708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553058708" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0F0-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Pro69", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "34170032", "evidence": [ { "id": "rs3389452816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389452816" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0F0-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Leu74", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "34170017", "evidence": [ { "id": "rs3406685536", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406685536" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0F0-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Cys78", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "34170004", "evidence": [ { "id": "rs3389422410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389422410" } ] } ] }, { "uniprot_canonical_ac": "Q9Z0F0-1", "start_pos": "82", "end_pos": "82", "site_lbl": "Glu82", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "34169992", "evidence": [ { "id": "rs3389461427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389461427" } ] } ] } ], "record_id": "Q9Z0F0-1" }, { "uniprot_canonical_ac": "Q9Z1S0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1052, "chemical_mass": 118392.0, "gene_names": "Bub1b;BUBR1;Bub1b;Mad3l", "protein_name": "Mitotic checkpoint serine/threonine-protein kinase BUB1 beta", "disease": [ { "disease_id": "DOID:0080141", "name": "mosaic variegated aneuploidy syndrome 1", "description": "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.", "url": "https://disease-ontology.org/term/DOID:0080141", "evidence": [ { "id": "0080141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080141" } ], "weight": 0.0 }, { "disease_id": "DOID:0080641", "name": "tongue carcinoma", "description": "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue.", "url": "https://disease-ontology.org/term/DOID:0080641", "evidence": [ { "id": "0080641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080641" } ], "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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to chromosome, centromeric region", "id": "GO:0071459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071459", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "meiotic sister chromatid cohesion, centromeric", "id": "GO:0051754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051754", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "metaphase/anaphase transition of mitotic cell cycle", "id": "GO:0007091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007091", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z1S0", "url": "https://www.uniprot.org/uniprotkb/Q9Z1S0" } ], "pmid": "" }, { "name": "cytoplasm", 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"weight": 0.0 } ], "biological_process": [ { "name": "vascular associated smooth muscle cell differentiation", "id": "GO:0035886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035886", "evidence": [ { "database": "UniProtKB", "id": "P03953", "url": "https://www.uniprot.org/uniprotkb/P03953" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "P03953", "url": "https://www.uniprot.org/uniprotkb/P03953" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P03953", "url": "https://www.uniprot.org/uniprotkb/P03953" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P03953", "url": 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"axon hillock", "id": "GO:0043203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043203", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "neuronal dense core vesicle lumen", "id": "GO:0099013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099013", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903999", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": 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cytochrome c from mitochondria", "id": "GO:0001836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001836", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "negative regulation of appetite", "id": "GO:0032099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032099", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "apoptotic DNA fragmentation", "id": "GO:0006309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006309", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "positive regulation of behavioral fear response", "id": "GO:2000987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000987", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "cholecystokinin signaling pathway", "id": "GO:0038188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038188", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "negative regulation of behavioral fear response", "id": "GO:2000986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000986", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "synaptic signaling via neuropeptide", "id": "GO:0099538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099538", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "positive regulation of pancreatic amylase secretion by cholecystokinin signaling pathway", "id": "GO:1902279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902279", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "peptide hormone receptor binding", "id": "GO:0051428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051428", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "P09240", "url": "https://www.uniprot.org/uniprotkb/P09240" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P09240-1" }, { "uniprot_canonical_ac": "P10146-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 92, "chemical_mass": 10276.0, "gene_names": "Ccl1;Ccl1;I-309;P500;Scya1;Tca-3;Tca3", "protein_name": "C-C motif chemokine 1", "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. 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 } ], "biological_process": [ { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "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": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "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": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "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": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "cellular response to interleukin-17", "id": "GO:0097398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097398", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P10146", "url": "https://www.uniprot.org/uniprotkb/P10146" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10146-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Asn78", "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": 78, "start_aa": "Asn", "end_pos": 78, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "P10146", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P10146#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P10146-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Pro91", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "11", "chr_pos": "82067657", "evidence": [ { "id": "rs1135361989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135361989" } ] } ] } ], "record_id": "P10146-1" }, { "uniprot_canonical_ac": "P10148-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 148, "chemical_mass": 16326.0, "gene_names": "Ccl2;Ccl2;HC11;JE;Je;MCAF;MCP-1;MCP1;Mcp1;SMC-CF;Scya2;Sigje", "protein_name": "C-C motif chemokine 2", "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.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "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:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10871", "name": "age related macular degeneration", "description": "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision.", "url": "https://disease-ontology.org/term/DOID:10871", "evidence": [ { "id": "10871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10871" } ], "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:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1115", "name": "sarcoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm.", "url": "https://disease-ontology.org/term/DOID:1115", "evidence": [ { "id": "1115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1115" } ], "weight": 0.0 }, { "disease_id": "DOID:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:12932", "name": "endomyocardial fibrosis", "description": "", "url": "https://disease-ontology.org/term/DOID:12932", "evidence": [ { "id": "12932", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12932" } ], "weight": 0.0 }, { "disease_id": "DOID:13100", "name": "intracranial vasospasm", "description": "", "url": "https://disease-ontology.org/term/DOID:13100", "evidence": [ { "id": "13100", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13100" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "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: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:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": "https://disease-ontology.org/term/DOID:13603", "evidence": [ { "id": "13603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13603" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "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: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:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:4029", "name": "gastritis", "description": "A stomach disease that is an inflammation of the lining of the stomach.", "url": "https://disease-ontology.org/term/DOID:4029", "evidence": [ { "id": "4029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4029" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID: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:823", "name": "periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:823", "evidence": [ { "id": "823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:823" } ], "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: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: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: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": 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"GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "response to activity", "id": "GO:0014823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014823", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "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": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "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": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "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": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "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": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0033552", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of glial cell apoptotic process", "id": "GO:0034351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034351", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "helper T cell extravasation", "id": "GO:0035684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035684", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "cellular response to macrophage colony-stimulating factor stimulus", "id": "GO:0036006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036006", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of 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"https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell chemotaxis", "id": "GO:2000502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000502", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "monocyte homeostasis", "id": "GO:0035702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035702", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial cell proliferation", "id": "GO:1905563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905563", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "positive regulation of glutamate receptor signaling pathway", "id": "GO:1900451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900451", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "chemokine (C-C motif) ligand 2 signaling pathway", "id": "GO:0038148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038148", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10148", "url": "https://www.uniprot.org/uniprotkb/P10148" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 92, "chemical_mass": 10345.0, "gene_names": "Ccl3;Ccl3;G0S19-1;LD78alpha;MIP-1alpha;MIP1-(a);MIP1-alpha;Mip1a;Scya3", "protein_name": "C-C motif chemokine 3", "disease": [ { "disease_id": "DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function.", "url": "https://disease-ontology.org/term/DOID:0050855", "evidence": [ { "id": "0050855", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized 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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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID: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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": 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"" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "regulation of sensory perception of pain", "id": "GO:0051930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051930", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "lymphocyte chemotaxis", "id": "GO:0048247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048247", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "astrocyte cell migration", "id": "GO:0043615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043615", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "signaling", "id": "GO:0023052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023052", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "exocytosis", "id": "GO:0006887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006887", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "granulocyte chemotaxis", "id": "GO:0071621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071621", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "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": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell chemotaxis", "id": "GO:2000503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000503", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "P10855", "url": "https://www.uniprot.org/uniprotkb/P10855" } ], "pmid": "" }, { "name": "macrophage chemotaxis", "id": "GO:0048246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048246", "evidence": [ { "database": 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"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: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: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": 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"10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12574", "name": "posterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12574", "evidence": [ { "id": "12574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12574" } ], "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: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:13976", "name": "peptic esophagitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13976", "evidence": [ { "id": "13976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13976" } ], "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: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:2518", "name": "orchitis", "description": "", "url": "https://disease-ontology.org/term/DOID:2518", "evidence": [ { "id": "2518", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2518" } ], "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: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: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: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:3753", "name": "Hermansky-Pudlak syndrome", "description": "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.", "url": "https://disease-ontology.org/term/DOID:3753", "evidence": [ { "id": "3753", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3753" } ], "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: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: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: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: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:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "phosphatidylinositol-4,5-bisphosphate phospholipase C activity", "id": "GO:0004435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004435", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "receptor signaling protein tyrosine kinase activator activity", "id": "GO:0030298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030298", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemokine receptor antagonist activity", "id": "GO:0046817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046817", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "chemokine receptor binding", "id": "GO:0042379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042379", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P30882", "url": "https://www.uniprot.org/uniprotkb/P30882" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": 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"https://www.uniprot.org/uniprotkb/Q5SRT8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q5SRT8-1" }, { "uniprot_canonical_ac": "Q60772-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 168, "chemical_mass": 18066.0, "gene_names": "Cdkn2c;Cdkn2c;INK4c;p18-INK4c;p18-INK6;p18INK4c;p18", "protein_name": "Cyclin-dependent kinase 4 inhibitor C", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "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": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "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": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" }, { "name": "cyclin-dependent protein serine/threonine kinase inhibitor activity", "id": "GO:0004861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004861", "evidence": [ { "database": "UniProtKB", "id": "Q60772", "url": "https://www.uniprot.org/uniprotkb/Q60772" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q60772-1" }, { "uniprot_canonical_ac": "Q62401-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 104, "chemical_mass": 11659.0, "gene_names": "Ccl12;Ccl12;MCP-5;Mcp5;Scya12", "protein_name": "C-C motif chemokine 12", "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: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: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: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:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "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:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "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: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: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:12351", "name": "alcoholic hepatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:12351", "evidence": [ { "id": "12351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ], "weight": 0.0 }, { "disease_id": "DOID:12842", "name": "Guillain-Barre syndrome", "description": "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:12842", "evidence": [ { "id": "12842", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12842" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13207", "name": "proliferative diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:13207", "evidence": [ { "id": "13207", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13207" } ], "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:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4617", "name": "periapical granuloma", "description": "", "url": "https://disease-ontology.org/term/DOID:4617", "evidence": [ { "id": "4617", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4617" } ], "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:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:631", "name": "fibromyalgia", "description": "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression.", "url": "https://disease-ontology.org/term/DOID:631", "evidence": [ { "id": "631", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:631" } ], "weight": 0.0 }, { "disease_id": "DOID: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:811", "name": "lipodystrophy", "description": "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue.", "url": "https://disease-ontology.org/term/DOID:811", "evidence": [ { "id": "811", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:811" } ], "weight": 0.0 }, { "disease_id": "DOID: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:823", "name": "periapical periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:823", "evidence": [ { "id": "823", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:823" } ], "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: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: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:934", "name": "viral infectious disease", "description": "A disease by infectious agent that results in infection, has_material_basis_in Viruses.", "url": "https://disease-ontology.org/term/DOID:934", "evidence": [ { "id": "934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:934" } ], "weight": 0.0 }, { "disease_id": "DOID:9507", "name": "ethmoid sinusitis", "description": "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead.", "url": "https://disease-ontology.org/term/DOID:9507", "evidence": [ { "id": "9507", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9507" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "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": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "positive regulation of leukocyte migration", "id": "GO:0002687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002687", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "negative regulation of leukocyte proliferation", "id": "GO:0070664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070664", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "phospholipase activator activity", "id": "GO:0016004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016004", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "CCR2 chemokine receptor binding", "id": "GO:0031727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031727", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62401", "url": "https://www.uniprot.org/uniprotkb/Q62401" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q62401-1" }, { "uniprot_canonical_ac": "Q6IR41-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 264, "chemical_mass": 29081.0, "gene_names": "C1qtnf6;2810036M19Rik;Adiq;C1qtnf6;CTRP6", "protein_name": "Complement C1q tumor necrosis factor-related protein 6", "disease": [ { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q6IR41", "url": "https://www.uniprot.org/uniprotkb/Q6IR41" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6IR41-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Asn77", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G80920RR", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "PYINITILK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "Q6IR41", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q6IR41#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q6IR41-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Thr93", "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": 93, "start_aa": "Thr", "end_pos": 93, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr93", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q6IR41-1" }, { "uniprot_canonical_ac": "Q7TPC1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TPC1", "url": "https://www.uniprot.org/uniprotkb/Q7TPC1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 561, 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{ "uniprot_canonical_ac": "Q91V98-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Arg633", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5120052", "evidence": [ { "id": "rs233300088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233300088" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "671", "end_pos": "671", "site_lbl": "Pro671", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5120164", "evidence": [ { "id": "rs211729304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs211729304" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Asp71", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5118364", "evidence": [ { "id": "rs226552902", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226552902" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "735", "end_pos": "735", "site_lbl": "Arg735", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5120357", "evidence": [ { "id": "rs39040017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs39040017" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "741", "end_pos": "741", "site_lbl": "Gly741", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5120375", "evidence": [ { "id": "rs3389528952", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389528952" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "74", "end_pos": "74", "site_lbl": "Val74", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5118374", "evidence": [ { "id": "rs3406967408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406967408" } ] } ] }, { "uniprot_canonical_ac": "Q91V98-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Gln97", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/endosialin.", "chr_id": "19", "chr_pos": "5118443", "evidence": [ { "id": "rs257967947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257967947" } ] } ] } ], "record_id": "Q91V98-1" }, { "uniprot_canonical_ac": "Q91ZW8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 237, "chemical_mass": 26925.0, "gene_names": "Cd209d;Cd209d;SIGN-R3;SIGNR3;mSIGNR3", "protein_name": "CD209 antigen-like protein D", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "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: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: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: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:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91ZW8", "url": "https://www.uniprot.org/uniprotkb/Q91ZW8" } ], "pmid": "" }, { "name": "cell adhesion receptor activity", "id": "GO:0004895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004895", "evidence": [ { "database": "UniProtKB", 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There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "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:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10533", "name": "viral pneumonia", "description": "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:10533", "evidence": [ { "id": "10533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10533" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "weight": 0.0 }, { "disease_id": "DOID:12120", "name": "pulmonary alveolar proteinosis", "description": "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.", "url": "https://disease-ontology.org/term/DOID:12120", "evidence": [ { "id": "12120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12120" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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: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: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:813", "name": "septic arthritis", "description": "An arthritis that involves infection by a pathogen located_in joint.", "url": "https://disease-ontology.org/term/DOID:813", "evidence": [ { "id": "813", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:813" } ], "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: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: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": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "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": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "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": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "leukocyte chemotaxis", "id": "GO:0030595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030595", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": "https://www.uniprot.org/uniprotkb/P14097" } ], "pmid": "" }, { "name": "CCR1 chemokine receptor binding", "id": "GO:0031726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031726", "evidence": [ { "database": "UniProtKB", "id": "P14097", "url": 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"evidence": [ { "id": "0060061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060318", "name": "acute promyelocytic leukemia", "description": "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17.", "url": "https://disease-ontology.org/term/DOID:0060318", "evidence": [ { "id": "0060318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060318" } ], "weight": 0.0 }, { "disease_id": "DOID:0080188", "name": "chronic myelomonocytic leukemia", "description": "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:0080188", "evidence": [ { "id": "0080188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080188" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:0111511", "name": "melanoma and neural system tumor syndrome", "description": "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3.", "url": "https://disease-ontology.org/term/DOID:0111511", "evidence": [ { "id": "0111511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111511" } ], "weight": 0.0 }, { "disease_id": "DOID:10041", "name": "dysplastic nevus syndrome", "description": "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members.", "url": "https://disease-ontology.org/term/DOID:10041", "evidence": [ { "id": "10041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10041" } ], "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:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1967", "name": "leiomyosarcoma", "description": "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.", "url": "https://disease-ontology.org/term/DOID:1967", "evidence": [ { "id": "1967", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1967" } ], "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: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:2999", "name": "granulosa cell tumor", "description": "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma.", "url": "https://disease-ontology.org/term/DOID:2999", "evidence": [ { "id": "2999", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2999" } ], "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:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3304", "name": "germinoma", "description": "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.", "url": "https://disease-ontology.org/term/DOID:3304", "evidence": [ { "id": "3304", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3304" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:5603", "name": "T-cell acute lymphoblastic leukemia", "description": "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood.", "url": "https://disease-ontology.org/term/DOID:5603", "evidence": [ { "id": "5603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5603" } ], "weight": 0.0 }, { "disease_id": "DOID:6171", "name": "uterine carcinosarcoma", "description": "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma.", "url": "https://disease-ontology.org/term/DOID:6171", "evidence": [ { "id": "6171", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6171" } ], "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:6846", "name": "familial melanoma", "description": "", "url": "https://disease-ontology.org/term/DOID:6846", "evidence": [ { "id": "6846", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6846" } ], "weight": 0.0 }, { "disease_id": "DOID:769", "name": "neuroblastoma", "description": "An autonomic nervous system neoplasm that derives_from immature nerve cells.", "url": "https://disease-ontology.org/term/DOID:769", "evidence": [ { "id": "769", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:769" } ], "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: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:8743", "name": "erythema infectiosum", "description": "A viral exanthem that has_material_basis_in Human parvovirus B19 (Erythroparvovirus primate1).", "url": "https://disease-ontology.org/term/DOID:8743", "evidence": [ { "id": "8743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8743" } ], "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: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:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "megakaryocyte differentiation", "id": "GO:0030219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030219", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "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": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "spleen development", "id": "GO:0048536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048536", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "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": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "cellular response to cell-matrix adhesion", "id": "GO:0071460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071460", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "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": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "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": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "regulation of G0 to G1 transition", "id": "GO:0070316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070316", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P55271", "url": "https://www.uniprot.org/uniprotkb/P55271" 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"pmid": "" } ], "biological_process": [ { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "L-leucine transport", "id": "GO:0015820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015820", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": "https://www.uniprot.org/uniprotkb/Q9Z127" } ], "pmid": "" }, { "name": "proline transport", "id": "GO:0015824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015824", "evidence": [ { "database": "UniProtKB", "id": "Q9Z127", "url": 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], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "bile acid metabolic process", "id": "GO:0008206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008206", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "establishment of protein localization to membrane", "id": "GO:0090150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090150", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "O35604", "url": "https://www.uniprot.org/uniprotkb/O35604" } ], "pmid": "" }, { "name": "programmed cell death", "id": 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"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:10908", "name": "hydrocephalus", "description": "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.", "url": "https://disease-ontology.org/term/DOID:10908", "evidence": [ { "id": "10908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10908" } ], "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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 } ], "biological_process": [ { "name": "enteric nervous system development", "id": "GO:0048484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048484", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of glial cell differentiation", "id": "GO:0045687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045687", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "mechanoreceptor differentiation", "id": "GO:0042490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042490", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "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": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "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": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "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": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": 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"https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" } ], "molecular_function": [ { "name": "nerve growth factor binding", "id": "GO:0048406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048406", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "chemoattractant activity", "id": "GO:0042056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042056", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "nerve growth factor receptor binding", "id": "GO:0005163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005163", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "neurotrophin p75 receptor binding", "id": "GO:0005166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005166", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "P20181", "url": "https://www.uniprot.org/uniprotkb/P20181" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P20181-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Asn131", "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": 131, "start_aa": "Asn", "end_pos": 131, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn131", "evidence": [ { "id": "P20181", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P20181#ptm_processing" } ] } ] } ], "record_id": "P20181-1" }, { "uniprot_canonical_ac": "P42586-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 30126.0, "gene_names": "Nkx2-2;Nkx-2.2;Nkx2-2;Nkx2.2;Nkx2b;tinman", "protein_name": "Homeobox protein Nkx-2.2", "disease": [ { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ 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{ "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": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P42586", "url": "https://www.uniprot.org/uniprotkb/P42586" } ], "pmid": "" }, { 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"url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transmission of nerve impulse", "id": "GO:0051970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051970", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "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": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "neuropeptide signaling pathway", "id": "GO:0007218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007218", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "eating behavior", "id": "GO:0042755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042755", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "behavioral response to ethanol", "id": "GO:0048149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048149", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "positive regulation of transmission of nerve impulse", "id": "GO:0051971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051971", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "phospholipase C-activating G protein-coupled receptor signaling pathway", "id": "GO:0007200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007200", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "drinking behavior", "id": "GO:0042756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042756", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "sleep", "id": "GO:0030431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030431", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "negative regulation of potassium ion transport", "id": "GO:0043267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043267", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "positive regulation of calcium ion transport", "id": "GO:0051928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051928", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "negative regulation of DNA replication", "id": "GO:0008156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008156", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" } ], "cellular_component": [ { "name": "rough endoplasmic reticulum", "id": "GO:0005791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005791", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "neuronal dense core vesicle lumen", "id": "GO:0099013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099013", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" } ], "molecular_function": [ { "name": "neuropeptide hormone activity", "id": "GO:0005184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005184", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "type 1 orexin receptor binding", "id": "GO:0031771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031771", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "type 2 orexin receptor binding", "id": "GO:0031772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031772", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" }, { "name": "neuropeptide activity", "id": "GO:0160041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160041", "evidence": [ { "database": "UniProtKB", "id": "O55241", "url": "https://www.uniprot.org/uniprotkb/O55241" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "O55241-1" }, { "uniprot_canonical_ac": "B1AZ99-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 396, "chemical_mass": 44576.0, "gene_names": "Otud3;3110030K17Rik;Otud3", "protein_name": "OTU domain-containing protein 3", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "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": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "protein deubiquitination", "id": "GO:0016579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016579", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "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": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "protein K48-linked deubiquitination", "id": "GO:0071108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071108", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "protein K6-linked deubiquitination", "id": "GO:0044313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044313", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" }, { "name": "protein 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"cysteine-type deubiquitinase activity", "id": "GO:0004843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004843", "evidence": [ { "database": "UniProtKB", "id": "B1AZ99", "url": "https://www.uniprot.org/uniprotkb/B1AZ99" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B1AZ99-1" }, { "uniprot_canonical_ac": "D3YYM0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 189, "chemical_mass": 21273.0, "gene_names": "Ovol3;Gm1903;Ovol3;movo3", "protein_name": "Putative transcription factor ovo-like protein 3", "disease": [], "biological_process": [ { "name": "epidermal cell differentiation", "id": "GO:0009913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009913", "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "pmid": "" }, { "name": "negative regulation of stem cell proliferation", "id": "GO:2000647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000647", "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "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": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "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": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "pmid": "" }, { "name": "regulation of keratinocyte differentiation", "id": "GO:0045616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045616", "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "pmid": "" }, { "name": "regulation of keratinocyte proliferation", "id": "GO:0010837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010837", "evidence": [ { "database": "UniProtKB", "id": "D3YYM0", "url": "https://www.uniprot.org/uniprotkb/D3YYM0" } ], "pmid": "" }, { "name": "negative regulation of multicellular organismal process", "id": "GO:0051241", "url": 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], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P23275-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Asn6", "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": 6, "start_aa": "Asn", "end_pos": 6, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn6", "evidence": [ { "id": "P23275", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P23275#ptm_processing" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "16", "chr_pos": "3656856", "evidence": [ { "id": "rs3389411168", "database": "dbSNP", "url": 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"sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129477029", "evidence": [ { "id": "rs215823304", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215823304" } ] } ] }, { "uniprot_canonical_ac": "Q9EQ09-1", "start_pos": "89", "end_pos": "89", "site_lbl": "Lys89", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/nk receptor.", "chr_id": "6", "chr_pos": "129465098", "evidence": [ { "id": "rs3388865939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388865939" } ] } ] }, { "uniprot_canonical_ac": "Q9EQ09-1", "start_pos": "90", "end_pos": "90", "site_lbl": "Ala90", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: 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mutation passed 1 filters: n-glyco-sequon-gain (NKR->NKC).", "chr_id": "15", "chr_pos": "76593049", "evidence": [ { "id": "rs223297119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223297119" } ] } ] } ], "record_id": "Q75NR7-1" }, { "uniprot_canonical_ac": "Q6ZWU9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6ZWU9", "url": "https://www.uniprot.org/uniprotkb/Q6ZWU9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 84, "chemical_mass": 9461.0, "gene_names": "Rps27;Gm9846;Rps27l2;Rps27rt;Rps27", "protein_name": "Small ribosomal subunit protein eS27", "disease": [ { "disease_id": "DOID:0111880", "name": "Diamond-Blackfan anemia 17", "description": "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3.", "url": "https://disease-ontology.org/term/DOID:0111880", 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"name": "protein K48-linked deubiquitination", "id": "GO:0071108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071108", "evidence": [ { "database": "UniProtKB", "id": "Q8CB27", "url": "https://www.uniprot.org/uniprotkb/Q8CB27" } ], "pmid": "" }, { "name": "negative regulation of retrograde protein transport, ER to cytosol", "id": "GO:1904153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904153", "evidence": [ { "database": "UniProtKB", "id": "Q8CB27", "url": "https://www.uniprot.org/uniprotkb/Q8CB27" } ], "pmid": "" }, { "name": "protein K29-linked deubiquitination", "id": "GO:0035523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035523", "evidence": [ { "database": "UniProtKB", "id": "Q8CB27", "url": "https://www.uniprot.org/uniprotkb/Q8CB27" } ], "pmid": "" }, { "name": "protein K27-linked deubiquitination", "id": "GO:1990167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990167", "evidence": [ { "database": "UniProtKB", "id": "Q8CB27", "url": 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"gene_names": "Optn;4930441O07Rik;FIP2;HYPL;NRP;Optn", "protein_name": "Optineurin", "disease": [ { "disease_id": "DOID:0060203", "name": "amyotrophic lateral sclerosis type 12", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10.", "url": "https://disease-ontology.org/term/DOID:0060203", "evidence": [ { "id": "0060203", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060203" } ], "weight": 0.0 }, { "disease_id": "DOID:0081294", "name": "neuronal intranuclear inclusion disease", "description": "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21.", "url": "https://disease-ontology.org/term/DOID:0081294", "evidence": [ { "id": "0081294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081294" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": 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Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13948", "name": "bladder neck obstruction", "description": "", "url": "https://disease-ontology.org/term/DOID:13948", "evidence": [ { "id": "13948", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13948" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q8K3K8", "url": "https://www.uniprot.org/uniprotkb/Q8K3K8" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": 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"" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CWE6", "url": "https://www.uniprot.org/uniprotkb/Q9CWE6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CWE6", "url": "https://www.uniprot.org/uniprotkb/Q9CWE6" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "Q9CWE6", "url": "https://www.uniprot.org/uniprotkb/Q9CWE6" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9CWE6", "url": "https://www.uniprot.org/uniprotkb/Q9CWE6" } ], "pmid": "" }, { "name": "protein-containing complex", "id": 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