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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: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: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:4330", "name": "non-Langerhans-cell histiocytosis", "description": "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells.", "url": "https://disease-ontology.org/term/DOID:4330", "evidence": [ { "id": "4330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4330" } ], "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:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "plasma membrane repair", "id": "GO:0001778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001778", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "positive regulation of killing of cells of another organism", "id": "GO:0051712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051712", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "immune response to tumor cell", "id": "GO:0002418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002418", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "ceramide biosynthetic process", "id": "GO:0046513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046513", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "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": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "protein import", "id": "GO:0017038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017038", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "T cell mediated cytotoxicity", "id": "GO:0001913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001913", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "immunological synapse formation", "id": "GO:0001771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001771", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "protein transmembrane transport", "id": "GO:0071806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071806", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "defense response to tumor cell", "id": "GO:0002357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002357", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "positive regulation of immune response to tumor cell", "id": "GO:0002839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002839", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "granzyme-mediated programmed cell death signaling pathway", "id": "GO:0140507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140507", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "pyroptotic cell death", "id": "GO:0141201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141201", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "immunological synapse", "id": "GO:0001772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001772", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "cytolytic granule", "id": "GO:0044194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044194", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "wide pore channel activity", "id": "GO:0022829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022829", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" }, { "name": "pore-forming activity", "id": "GO:0140911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140911", "evidence": [ { "database": "UniProtKB", "id": "P10820", "url": "https://www.uniprot.org/uniprotkb/P10820" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10820-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Asn204", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": { "label": "iCn3D", "url": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080822" } ], "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:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3627", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size.", "url": "https://disease-ontology.org/term/DOID:3627", "evidence": [ { "id": "3627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3627" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "negative regulation of integrin activation", "id": "GO:0033624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033624", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of ovarian follicle development", "id": "GO:2000386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000386", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "chemokinesis", "id": "GO:0042466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042466", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of ductus arteriosus closure", "id": "GO:1904336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904336", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of calcitonin secretion", "id": "GO:1904364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904364", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of chemokinesis", "id": "GO:1904367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904367", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of substance P secretion", "id": "GO:1904460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904460", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of matrix metallopeptidase secretion", "id": "GO:1904466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904466", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of endothelin production", "id": "GO:1904471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904471", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of substance P secretion, neurotransmission", "id": "GO:1904496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904496", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "cAMP biosynthetic process", "id": "GO:0006171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006171", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "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": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "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": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "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": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "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": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of mucus secretion", "id": "GO:0070256", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070256", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "id": "GO:0007188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007188", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "cellular response to prostaglandin E stimulus", "id": "GO:0071380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071380", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of neutrophil extravasation", "id": "GO:2000391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000391", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of wound healing", "id": "GO:0090303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090303", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "regulation of stress fiber assembly", "id": "GO:0051492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051492", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of protein modification process", "id": "GO:0031401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031401", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "ductus arteriosus closure", "id": "GO:0097070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097070", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "T-helper cell differentiation", "id": "GO:0042093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042093", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of interleukin-8 production", "id": "GO:0032717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032717", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of mucus secretion", "id": "GO:0070257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070257", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of interleukin-10 production", "id": "GO:0032733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032733", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "regulation of circadian sleep/wake cycle, wakefulness", "id": "GO:0010840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010840", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of antral ovarian follicle growth", "id": "GO:2000388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000388", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of cytokine production", "id": "GO:0001818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001818", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of ossification", "id": "GO:0045778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045778", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of hyaluronan biosynthetic process", "id": "GO:1900127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900127", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "response to prostaglandin E", "id": "GO:0034695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034695", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "response to nematode", "id": "GO:0009624", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009624", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "positive regulation of circadian sleep/wake cycle, non-REM sleep", "id": "GO:0046010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046010", "evidence": [ { "database": "UniProtKB", "id": "P32240", "url": "https://www.uniprot.org/uniprotkb/P32240" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 alpha production", "id": "GO:0032690", "url": 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"Rassf7;2400009B11Rik;Rassf7", "protein_name": "Ras association domain-containing protein 7", "disease": [], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9DD19", "url": "https://www.uniprot.org/uniprotkb/Q9DD19" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9DD19", "url": "https://www.uniprot.org/uniprotkb/Q9DD19" } ], "pmid": "" } ], "cellular_component": [ { "name": "centriolar satellite", "id": "GO:0034451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034451", "evidence": [ { "database": "UniProtKB", "id": "Q9DD19", "url": "https://www.uniprot.org/uniprotkb/Q9DD19" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9DD19", "url": "https://www.uniprot.org/uniprotkb/Q9DD19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DD19-1" }, { "uniprot_canonical_ac": "A2AGL3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4863, "chemical_mass": 551328.0, "gene_names": "Ryr3;C230090H21;RYR-3;Ryr3", "protein_name": "Ryanodine receptor 3", "disease": [ { "disease_id": "DOID:0081352", "name": "congenital myopathy 20", "description": "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.", "url": "https://disease-ontology.org/term/DOID:0081352", "evidence": [ { "id": "0081352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081352" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "intracellularly gated calcium channel activity", "id": "GO:0015278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015278", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "ryanodine-sensitive calcium-release channel activity", "id": "GO:0005219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005219", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" } ], "cellular_component": [ { "name": "smooth endoplasmic reticulum", "id": "GO:0005790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005790", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "junctional membrane complex", "id": "GO:0030314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030314", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homotetramerization", "id": "GO:0051289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051289", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "striated muscle contraction", "id": "GO:0006941", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006941", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "cellular response to magnesium ion", "id": "GO:0071286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071286", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "release of sequestered calcium ion into cytosol by sarcoplasmic reticulum", "id": "GO:0014808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014808", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "cellular response to caffeine", "id": "GO:0071313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071313", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" }, { "name": "cellular response to ATP", "id": "GO:0071318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071318", "evidence": [ { "database": "UniProtKB", "id": "A2AGL3", "url": "https://www.uniprot.org/uniprotkb/A2AGL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2AGL3-1" }, { "uniprot_canonical_ac": "Q9WVC6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 431, "chemical_mass": 48928.0, "gene_names": "Sgk1;Sgk1;Sgk", "protein_name": "Serine/threonine-protein kinase Sgk1", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3114", "name": "serous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions.", "url": "https://disease-ontology.org/term/DOID:3114", "evidence": [ { "id": "3114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3114" } ], "weight": 0.0 }, { "disease_id": "DOID:3603", "name": "mucinous cystadenocarcinoma", "description": "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells.", "url": "https://disease-ontology.org/term/DOID:3603", "evidence": [ { "id": "3603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3603" } ], "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": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "protein serine/threonine/tyrosine kinase activity", "id": "GO:0004712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004712", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "3-phosphoinositide-dependent protein kinase binding", "id": "GO:0043423", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043423", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": 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"id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "four-way junction helicase activity", "id": "GO:0009378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009378", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of double-strand break repair via homologous recombination", "id": "GO:2000042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000042", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "mitotic cell cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q8VID5", "url": "https://www.uniprot.org/uniprotkb/Q8VID5" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": 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"id": "Q923I7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q923I7#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Ser398", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (SSS->NSS); glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869761", "evidence": [ { "id": "rs3388953663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953663" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Leu106", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866650", "evidence": [ { "id": "rs3388908171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908171" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Leu116", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866557", "evidence": [ { "id": "rs3388955990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388955990" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "123", "end_pos": "123", "site_lbl": "Met123", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866580", "evidence": [ { "id": "rs3388940448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388940448" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Ser141", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866632", "evidence": [ { "id": "rs3388951160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951160" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "143", "end_pos": "143", "site_lbl": "Leu143", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866650", "evidence": [ { "id": "rs3388908171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908171" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "147", "end_pos": "147", "site_lbl": "Leu147", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866650", "evidence": [ { "id": "rs3388908171", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908171" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "148", "end_pos": "148", "site_lbl": "Tyr148", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127866653", "evidence": [ { "id": "rs3388947115", "database": "dbSNP", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13473256" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ala193", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868125", "evidence": [ { "id": "rs3388908177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908177" } ] }, { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868175", "evidence": [ { "id": "rs3388908178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908178" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "207", "end_pos": "207", "site_lbl": "Leu207", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127867955", "evidence": [ { "id": "rs3388940411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388940411" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Ala210", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868175", "evidence": [ { "id": "rs3388908178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908178" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Ala217", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868125", "evidence": [ { "id": "rs3388908177", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908177" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Ala234", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868175", "evidence": [ { "id": "rs3388908178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908178" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Val284", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868325", "evidence": [ { "id": "rs3388950598", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388950598" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Trp287", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127868334", "evidence": [ { "id": "rs3388954892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388954892" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Ser333", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127871207", "evidence": [ { "id": "rs33212804", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33212804" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Arg334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869222", "evidence": [ { "id": "rs3388958059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958059" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "370", "end_pos": "370", "site_lbl": "Lys370", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869546", "evidence": [ { "id": "rs3388947087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388947087" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Asn374", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869557", "evidence": [ { "id": "rs3388908203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388908203" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Gly375", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869692", "evidence": [ { "id": "rs3388925231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388925231" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Ser399", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869765", "evidence": [ { "id": "rs3388954906", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388954906" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ala415", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869811", "evidence": [ { "id": "rs3388954631", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388954631" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Trp438", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127869994", "evidence": [ { "id": "rs3546178773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546178773" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Pro463", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127870068", "evidence": [ { "id": "rs3388951130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951130" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "4", "end_pos": "4", "site_lbl": "His4", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127864878", "evidence": [ { "id": "rs232146169", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232146169" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Phe502", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127870268", "evidence": [ { "id": "rs3388951298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388951298" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Leu540", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127870382", "evidence": [ { "id": "rs3388946486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388946486" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "582", "end_pos": "582", "site_lbl": "Ala582", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127871006", "evidence": [ { "id": "rs3388925219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388925219" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Pro583", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127871009", "evidence": [ { "id": "rs3388931516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388931516" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Arg608", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127871169", "evidence": [ { "id": "rs3388954897", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388954897" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Lys618", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127871199", "evidence": [ { "id": "rs242426204", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242426204" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Ser621", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127871207", "evidence": [ { "id": "rs33212804", "database": "dbSNP", 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"name": "Pick's disease", "description": "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function.", "url": "https://disease-ontology.org/term/DOID:11870", "evidence": [ { "id": "11870", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11870" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:12217", "name": "Lewy body dementia", "description": "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3981", "name": "pantothenate kinase-associated neurodegeneration", "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.", "url": "https://disease-ontology.org/term/DOID:3981", "evidence": [ { "id": "3981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3981" } ], "weight": 0.0 }, { "disease_id": "DOID:4752", "name": "multiple system atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:4752", "evidence": [ { "id": "4752", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4752" } ], "weight": 0.0 }, { "disease_id": "DOID: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:670", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:670", "evidence": [ { "id": "670", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:670" } ], "weight": 0.0 }, { "disease_id": "DOID:8692", "name": "myeloid leukemia", "description": "A leukemia that is located_in myeloid tissue.", "url": "https://disease-ontology.org/term/DOID:8692", "evidence": [ { "id": "8692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8692" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "supramolecular fiber", "id": "GO:0099512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099512", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "axon terminus", "id": "GO:0043679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043679", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "ribosome", "id": "GO:0005840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005840", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "platelet alpha granule membrane", "id": "GO:0031092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031092", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "inclusion body", "id": "GO:0016234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016234", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" } ], "biological_process": [ { "name": "neutral lipid metabolic process", "id": "GO:0006638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006638", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of glutamate secretion", "id": "GO:0014048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014048", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of acyl-CoA biosynthetic process", "id": "GO:0050812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050812", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of dopamine uptake involved in synaptic transmission", "id": "GO:0051585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051585", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of norepinephrine uptake", "id": "GO:0051622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051622", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide catabolic process", "id": "GO:1903285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903285", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of chaperone-mediated autophagy", "id": "GO:1904715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904715", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of locomotion", "id": "GO:0040012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040012", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "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": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "protein tetramerization", "id": "GO:0051262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051262", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "excitatory postsynaptic potential", "id": "GO:0060079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060079", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synaptic transmission, dopaminergic", "id": "GO:0001963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001963", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "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": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of neurotransmitter secretion", "id": "GO:0046928", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046928", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "dopamine biosynthetic process", "id": "GO:0042416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042416", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051281", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "response to iron(II) ion", "id": "GO:0010040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010040", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of receptor recycling", "id": "GO:0001921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001921", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of platelet-derived growth factor receptor signaling pathway", "id": "GO:0010642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010642", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "dopamine metabolic process", "id": "GO:0042417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042417", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "response to interleukin-1", "id": "GO:0070555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070555", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of neuronal synaptic plasticity", "id": "GO:0048168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cellular response to copper ion", "id": "GO:0071280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071280", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "phospholipid metabolic process", "id": "GO:0006644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006644", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of exocytosis", "id": "GO:0045920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045920", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "cellular response to fibroblast growth factor stimulus", "id": "GO:0044344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044344", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of macrophage activation", "id": "GO:0043030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043030", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "negative regulation of serotonin uptake", "id": "GO:0051612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051612", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "SNARE complex assembly", "id": "GO:0035493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035493", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synaptic vesicle exocytosis", "id": "GO:0016079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016079", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "mitochondrial ATP synthesis coupled electron transport", "id": "GO:0042775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042775", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": 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"O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "synaptic vesicle transport", "id": "GO:0048489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048489", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of inositol phosphate biosynthetic process", "id": "GO:0060732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060732", "evidence": [ { 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signaling pathway", "id": "GO:0070495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070495", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of SNARE complex assembly", "id": "GO:0035543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035543", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell periphery", "id": "GO:1904377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904377", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "arachidonate binding", "id": "GO:0050544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050544", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "O55042", "url": "https://www.uniprot.org/uniprotkb/O55042" } ], "pmid": "" }, { 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"chr_id": "1", "chr_pos": "131696957", "evidence": [ { "id": "rs3388496529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388496529" } ] } ] }, { "uniprot_canonical_ac": "Q8BU91-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Arg7", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "1", "chr_pos": "131678355", "evidence": [ { "id": "rs3388495329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388495329" } ] } ] }, { "uniprot_canonical_ac": "Q8BU91-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Phe92", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "1", "chr_pos": "131680867", 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"mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Does not potentiate the phosphorylation of the CREB transcription factor; when associated with A-123.", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2E4", "url": "https://www.uniprot.org/uniprotkb/Q9Z2E4" }, { "database": "PubMed", "id": "9920894", "url": "https://glygen.org/publication/PubMed/9920894" } ] } ] } ], "record_id": "Q9Z2E4-1" }, { "uniprot_canonical_ac": "P62835-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 184, "chemical_mass": 20987.0, "gene_names": "Rap1a;G-22K;Krev-1;Rap1a;Rap1", "protein_name": "Ras-related protein Rap-1A", "disease": [], "biological_process": [ { "name": "negative regulation of synaptic vesicle exocytosis", "id": "GO:2000301", "url": 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"name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "cellular response to nerve growth factor stimulus", "id": "GO:1990090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990090", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "positive regulation of D-glucose import", "id": "GO:0046326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046326", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "positive regulation of vasculogenesis", "id": "GO:2001214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001214", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "insulin secretion", "id": "GO:0030073", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030073", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "regulation of cell junction assembly", "id": "GO:1901888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901888", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "regulation of neurotransmitter receptor localization to postsynaptic specialization membrane", "id": "GO:0098696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098696", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "response to antineoplastic agent", "id": "GO:0097327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097327", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "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": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "nerve growth factor signaling pathway", "id": "GO:0038180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038180", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "dense core granule", "id": "GO:0031045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031045", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor complex", "id": "GO:0032045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032045", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "anchoring junction", "id": "GO:0070161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070161", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" } ], "molecular_function": [ { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P62835", "url": "https://www.uniprot.org/uniprotkb/P62835" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P62835-1" }, { "uniprot_canonical_ac": "P08556-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08556", "url": "https://www.uniprot.org/uniprotkb/P08556" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 189, "chemical_mass": 21199.0, "gene_names": "Nras", "protein_name": "GTPase NRas", "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": 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"disease_id": "DOID:0111530", "name": "linear nevus sebaceous syndrome", "description": "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0111530", "evidence": [ { "id": "0111530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111530" } ], "weight": 0.0 }, { "disease_id": "DOID:10155", "name": "intestinal cancer", "description": "A gastrointestinal system cancer that is located_in the intestine.", "url": "https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "weight": 0.0 }, { "disease_id": "DOID:10283", "name": "prostate 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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:12918", "name": "thromboangiitis obliterans", "description": "", "url": "https://disease-ontology.org/term/DOID:12918", "evidence": [ { "id": "12918", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12918" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1891", "name": "optic nerve disease", "description": "A cranial nerve disease that is located_in the optic nerve.", "url": "https://disease-ontology.org/term/DOID:1891", "evidence": [ { "id": "1891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1891" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:520", "name": "aortic disease", "description": "An artery disease that is characterized by degeneration of the cells composing the aortic wall.", "url": "https://disease-ontology.org/term/DOID:520", "evidence": [ { "id": "520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:520" } ], "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:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8515", "name": "Cor pulmonale", "description": "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.", "url": "https://disease-ontology.org/term/DOID:8515", "evidence": [ { "id": "8515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8515" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9540", "name": "vascular skin disease", "description": "", "url": "https://disease-ontology.org/term/DOID:9540", "evidence": [ { "id": "9540", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9540" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of p38MAPK cascade", "id": "GO:1900744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900744", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of dendritic cell differentiation", "id": "GO:2001200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001200", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of interleukin-10 production", "id": "GO:0032693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032693", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "regulation of T cell mediated cytotoxicity", "id": "GO:0001914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001914", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of connective tissue replacement involved in inflammatory response wound healing", "id": "GO:1904597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904597", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "regulation of CD4-positive, alpha-beta T cell activation", "id": "GO:2000514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000514", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "astrocyte activation", "id": "GO:0048143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048143", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "response to amyloid-beta", "id": "GO:1904645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904645", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "DNA replication", "id": "GO:0006260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006260", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of p38MAPK cascade", "id": "GO:1900745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900745", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis, engulfment", "id": "GO:0060100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060100", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of fibroblast migration", "id": "GO:0010763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010763", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "regulation of long-term synaptic potentiation", "id": "GO:1900271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900271", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "transcytosis", "id": "GO:0045056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045056", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of JUN kinase activity", "id": "GO:0043507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043507", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated DNA replication", "id": "GO:2000105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000105", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of type B pancreatic cell apoptotic process", "id": "GO:2000676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000676", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of interleukin-12 production", "id": "GO:0032735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032735", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "glucose mediated signaling pathway", "id": "GO:0010255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010255", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of monocyte extravasation", "id": "GO:2000439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000439", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "regulation of spontaneous synaptic transmission", "id": "GO:0150003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150003", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of signaling", "id": "GO:0023057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023057", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of signaling", "id": "GO:0023056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023056", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "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": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "negative regulation of blood circulation", "id": "GO:1903523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903523", "evidence": [ { "database": 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"name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": 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hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ], "pmid": "" }, { "name": "nuclear export", "id": "GO:0051168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051168", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ], "pmid": "" }, { "name": "activation of GTPase activity", "id": "GO:0090630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090630", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ], "pmid": "" }, { "name": "negative regulation of protein export from nucleus", "id": "GO:0046826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046826", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P46061-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Thr411", "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": 411, "start_aa": "Thr", "end_pos": 411, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr411", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "D", "comment": "Greatly reduced phosphorylation by CDK1 or CDK2. Completely abolished phosphorylation by CDK1 or CDK2; when associated with D-444.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "15037602", "url": "https://glygen.org/publication/PubMed/15037602" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Ser24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ser301", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Ser358", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Ser430", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Ser437", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Thr438", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "441", "end_pos": "441", "site_lbl": "Ser441", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P46061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46061" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ser444", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "15037602", "url": "https://glygen.org/publication/PubMed/15037602" }, { "database": "iPTMnet", "id": "P46061", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P46061" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Little change in phosphorylation by CDK1 or CDK2. 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"database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ile520", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "521", "end_pos": "521", "site_lbl": "His521", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Met522", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Leu524", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Leu525", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Disrupted binding to UBE2I, and no sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Lys526", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No UBE2I binding nor sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "9456312", "url": "https://glygen.org/publication/PubMed/9456312" }, { "database": "PubMed", "id": "16469311", "url": "https://glygen.org/publication/PubMed/16469311" }, { "database": "PubMed", "id": "11853669", "url": 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Not targeted to the nuclear envelope rim nor to nuclear pore complexes. Disrupted sumoylation. No interaction with SUMO1; when associated with A-564 and with or without SUMO1 A-97.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "9442102", "url": "https://glygen.org/publication/PubMed/9442102" }, { "database": "PubMed", "id": "9456312", "url": "https://glygen.org/publication/PubMed/9456312" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" }, { "database": "PubMed", "id": "16469311", "url": "https://glygen.org/publication/PubMed/16469311" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Glu528", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No UBE2I binding nor sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Asp529", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Ile531", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Leu537", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Leu560", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Ala563", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "L", "comment": "No effect on UBE2I binding nor on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Phe564", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "No UBE2I binding nor sumoylation. Not targeted to nuclear pore complexes; when associated with R-526.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" }, { "database": "PubMed", "id": "9456312", "url": "https://glygen.org/publication/PubMed/9456312" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Lys567", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No UBE2I binding nor sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "P46061", "url": "https://www.uniprot.org/uniprotkb/P46061" }, { "database": "PubMed", "id": "11853669", "url": "https://glygen.org/publication/PubMed/11853669" } ] } ] }, { "uniprot_canonical_ac": "P46061-1", "start_pos": "569", "end_pos": "569", "site_lbl": "Asn569", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": 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"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": "P35546", "url": "https://www.uniprot.org/uniprotkb/P35546" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P35546", "url": "https://www.uniprot.org/uniprotkb/P35546" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P35546", "url": "https://www.uniprot.org/uniprotkb/P35546" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion mediated by integrin", "id": "GO:0033630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033630", "evidence": [ { "database": "UniProtKB", "id": "P35546", "url": 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} ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "P58801", "url": "https://www.uniprot.org/uniprotkb/P58801" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "P58801", "url": "https://www.uniprot.org/uniprotkb/P58801" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "P58801", "url": "https://www.uniprot.org/uniprotkb/P58801" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { 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[10090]" } ], "length": 380, "chemical_mass": 43143.0, "gene_names": "Rbmyf9;100041505;Gm3376;Rbmy1b;Rbmyf9;Rbm", "protein_name": "RNA-binding motif protein, Y chromosome, family 9", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q60990", "url": "https://www.uniprot.org/uniprotkb/Q60990" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q60990", "url": "https://www.uniprot.org/uniprotkb/Q60990" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q60990", "url": "https://www.uniprot.org/uniprotkb/Q60990" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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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:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "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 } ], 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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:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11088", "name": "asphyxia neonatorum", "description": "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain.", "url": "https://disease-ontology.org/term/DOID:11088", "evidence": [ { "id": "11088", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11088" } ], "weight": 0.0 }, { "disease_id": "DOID:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID:12783", "name": "migraine without aura", "description": "A migraine that is characterized by migraine headaches that are not accompanied by an aura.", "url": "https://disease-ontology.org/term/DOID:12783", "evidence": [ { "id": "12783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12783" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1440", "name": "Machado-Joseph disease", "description": "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.", "url": "https://disease-ontology.org/term/DOID:1440", "evidence": [ { "id": "1440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1440" } ], "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: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:2366", "name": "West Nile fever", "description": "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus (Orthoflavivirus nilense), which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:2366", "evidence": [ { "id": "2366", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2366" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID:3213", "name": "demyelinating disease", "description": "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons.", "url": "https://disease-ontology.org/term/DOID:3213", "evidence": [ { "id": "3213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3213" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8869" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "biological_process": [ { "name": "astrocyte differentiation", "id": "GO:0048708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048708", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "sympathetic neuron projection extension", "id": "GO:0097490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097490", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "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": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "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": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "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": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "energy reserve metabolic process", "id": "GO:0006112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006112", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "regulation of neuronal synaptic plasticity", "id": "GO:0048168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048168", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "response to methylmercury", "id": "GO:0051597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051597", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle cell differentiation", "id": "GO:2001015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001015", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission", "id": "GO:0050806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050806", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "positive regulation of myelination", "id": "GO:0031643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031643", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "adaptive thermogenesis", "id": "GO:1990845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990845", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "response to anesthetic", "id": "GO:0072347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072347", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" } ], "molecular_function": [ { "name": "RAGE receptor binding", "id": "GO:0050786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050786", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": 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"url": "https://www.uniprot.org/uniprotkb/Q8BJA2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BJA2-1", "start_pos": "19", "end_pos": "19", "site_lbl": "Thr19", "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": 19, "start_aa": "Thr", "end_pos": 19, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr19", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q8BJA2-1" }, { "uniprot_canonical_ac": "Q8BVN7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BVN7", "url": 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Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features.", "url": "https://disease-ontology.org/term/DOID:0080739", "evidence": [ { "id": "0080739", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080739" } ], "weight": 0.0 }, { "disease_id": "DOID:13359", "name": "Ehlers-Danlos syndrome", "description": "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. 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membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q8C8C1", "url": "https://www.uniprot.org/uniprotkb/Q8C8C1" } ], "pmid": "" }, { "name": "protein insertion into membrane", "id": "GO:0051205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051205", "evidence": [ { "database": "UniProtKB", "id": "Q8C8C1", "url": "https://www.uniprot.org/uniprotkb/Q8C8C1" } ], "pmid": "" }, { "name": "detection of chemical stimulus involved in sensory perception of bitter taste", "id": "GO:0001580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001580", "evidence": [ { "database": "UniProtKB", "id": "Q8C8C1", "url": "https://www.uniprot.org/uniprotkb/Q8C8C1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8C8C1-1" }, { "uniprot_canonical_ac": "Q8K352-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K352", "url": 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"chr_id": "18", "chr_pos": "36815608", "evidence": [ { "id": "rs3389489410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389489410" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "157", "end_pos": "157", "site_lbl": "Ala157", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815641", "evidence": [ { "id": "rs3553833435", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553833435" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Gln162", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815655", "evidence": [ { "id": "rs108108279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108108279" } ] }, { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815656", "evidence": [ { "id": "rs3389442657", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442657" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "165", "end_pos": "165", "site_lbl": "Val165", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815664", "evidence": [ { "id": "rs3553668647", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553668647" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Asn166", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815668", "evidence": [ { "id": "rs3553928057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553928057" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Ala172", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815685", "evidence": [ { "id": "rs107973930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107973930" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815686", "evidence": [ { "id": "rs3553927944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553927944" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ala174", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815691", "evidence": [ { "id": "rs3553622006", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553622006" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "175", "end_pos": "175", "site_lbl": "Ala175", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815694", "evidence": [ { "id": "rs3553774773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553774773" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Ala177", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815700", "evidence": [ { "id": "rs3553833196", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553833196" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "178", "end_pos": "178", "site_lbl": "His178", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815704", "evidence": [ { "id": "rs582259234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs582259234" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815742", "evidence": [ { "id": "rs1133701938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133701938" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Leu192", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815745", "evidence": [ { "id": "rs3553833357", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553833357" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Ile193", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815748", "evidence": [ { "id": "rs3389491251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389491251" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Tyr195", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815755", "evidence": [ { "id": "rs3553727859", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553727859" } ] }, { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815754", "evidence": [ { "id": "rs3389510736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389510736" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "196", "end_pos": "196", "site_lbl": "Cys196", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815759", "evidence": [ { "id": "rs3553928045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553928045" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Val204", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815781", "evidence": [ { "id": "rs3553617063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553617063" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Ala218", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815824", "evidence": [ { "id": "rs3553668685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553668685" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Phe233", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815868", "evidence": [ { "id": "rs583658466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs583658466" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Tyr236", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815877", "evidence": [ { "id": "rs3553591935", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553591935" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Trp252", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815926", "evidence": [ { "id": "rs1133489139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133489139" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Leu255", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815934", "evidence": [ { "id": "rs3389489445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389489445" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Val256", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815937", "evidence": [ { "id": "rs3553588573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553588573" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Leu258", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815943", "evidence": [ { "id": "rs3389475995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389475995" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "266", "end_pos": "266", "site_lbl": "Leu266", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815968", "evidence": [ { "id": "rs3553591847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553591847" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Ser275", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815996", "evidence": [ { "id": "rs108577490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108577490" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Arg279", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816007", "evidence": [ { "id": "rs3553622113", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553622113" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Ala28", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815254", "evidence": [ { "id": "rs3389475951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389475951" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Ser294", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816052", "evidence": [ { "id": "rs3553668669", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553668669" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Leu302", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816076", "evidence": [ { "id": "rs3553591861", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553591861" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Leu308", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816094", "evidence": [ { "id": "rs3553668714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553668714" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "309", "end_pos": "309", "site_lbl": "Ala309", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816096", "evidence": [ { "id": "rs3408362494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408362494" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Tyr30", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815259", "evidence": [ { "id": "rs259272787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259272787" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Leu311", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816103", "evidence": [ { "id": "rs3553927937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553927937" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Ser323", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36816139", "evidence": [ { "id": "rs3553617061", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553617061" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "33", "end_pos": "33", "site_lbl": "His33", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815268", "evidence": [ { "id": "rs1135134571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135134571" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Pro35", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815275", "evidence": [ { "id": "rs1134316272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134316272" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Val3", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815178", "evidence": [ { "id": "rs1132597018", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132597018" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Arg45", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815304", "evidence": [ { "id": "rs3553698744", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553698744" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Arg49", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815316", "evidence": [ { "id": "rs1132222522", "database": "dbSNP", "url": 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"https://www.uniprot.org/uniprotkb/P16043" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P16043-1" }, { "uniprot_canonical_ac": "P40224-2", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 93, "chemical_mass": 10561.0, "gene_names": "Cxcl12;Cxcl12;Pbsf;Scyb12;Sdf1;Tlsf;Tpar1", "protein_name": "Stromal cell-derived factor 1", "disease": [ { "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: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: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: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: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:2596", "name": "larynx cancer", "description": "A respiratory system cancer that is located_in the larynx.", "url": "https://disease-ontology.org/term/DOID:2596", "evidence": [ { "id": "2596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2596" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3892", "name": "insulinoma", "description": "A pancreatic cystadenoma that is characterized by the overproduction of insulin.", "url": "https://disease-ontology.org/term/DOID:3892", "evidence": [ { "id": "3892", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3892" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": 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"evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to chemokine", "id": "GO:1990869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990869", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "negative regulation of dendritic cell apoptotic process", "id": "GO:2000669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000669", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotaxis", "id": "GO:0090026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090026", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:1902230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902230", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of T cell migration", "id": "GO:2000406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000406", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": "GO:0051924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051924", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "detection of mechanical stimulus involved in sensory perception of pain", "id": "GO:0050966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050966", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of dopamine secretion", "id": "GO:0033603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033603", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of myoblast fusion", "id": "GO:1901741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901741", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "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": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "induction of positive chemotaxis", "id": "GO:0050930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050930", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of calcium ion import", "id": "GO:0090280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090280", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "integrin activation", "id": "GO:0033622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033622", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "germ cell migration", "id": "GO:0008354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008354", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": 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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. 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"id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of fatty acid oxidation", "id": "GO:0046322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046322", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "homeostasis of number of cells 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development", "id": "GO:0014032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014032", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "Harderian gland development", "id": "GO:0070384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070384", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "hair 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"regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "nucleosome assembly", "id": "GO:0006334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006334", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, 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"name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation", "id": "GO:0050679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050679", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cellular response to heparin", "id": "GO:0071504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071504", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "lung epithelial cell differentiation", "id": "GO:0060487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060487", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "notochord development", "id": "GO:0030903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030903", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "ureter development", "id": "GO:0072189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072189", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "retinal rod cell differentiation", "id": "GO:0060221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060221", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of immune system process", "id": "GO:0002683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002683", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "intrahepatic bile duct development", "id": "GO:0035622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035622", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in prostatic bud elongation", "id": "GO:0060517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060517", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "bronchus cartilage development", "id": "GO:0060532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060532", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "intestinal epithelial structure maintenance", "id": "GO:0060729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060729", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of cell proliferation involved in tissue homeostasis", "id": "GO:0060784", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060784", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of branching involved in lung morphogenesis", "id": "GO:0061046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061046", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "morphogenesis of a branching epithelium", "id": "GO:0061138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061138", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "lung smooth muscle development", "id": "GO:0061145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061145", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "renal vesicle induction", "id": "GO:0072034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072034", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "ureter morphogenesis", "id": "GO:0072197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072197", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation involved in lung morphogenesis", "id": "GO:2000794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000794", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "chondrocyte differentiation involved in endochondral bone morphogenesis", "id": "GO:0003413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003413", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "male sex determination", "id": "GO:0030238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030238", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of cell cycle process", "id": "GO:0010564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010564", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal stem cell differentiation", "id": "GO:2000741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000741", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte growth", "id": "GO:0003430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003430", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "heart valve formation", "id": "GO:0003188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003188", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "chondrocyte development", "id": "GO:0002063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002063", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "endochondral bone morphogenesis", "id": "GO:0060350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060350", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { 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"gene_names": "Vgll1;Tondu;Vgll1", "protein_name": "Transcription cofactor vestigial-like protein 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99NC0", "url": "https://www.uniprot.org/uniprotkb/Q99NC0" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99NC0", "url": "https://www.uniprot.org/uniprotkb/Q99NC0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99NC0", "url": "https://www.uniprot.org/uniprotkb/Q99NC0" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": 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"name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], "pmid": "" }, { "name": "bHLH transcription factor binding", "id": "GO:0043425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043425", "evidence": [ { "database": "UniProtKB", "id": "Q61069", "url": "https://www.uniprot.org/uniprotkb/Q61069" } ], 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musculus [10090]" } ], "length": 207, "chemical_mass": 24056.0, "gene_names": "Tex35;1700057K13Rik;Tex35;Tsc24", "protein_name": "Testis-expressed protein 35", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q14BK3", "url": "https://www.uniprot.org/uniprotkb/Q14BK3" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q14BK3", "url": "https://www.uniprot.org/uniprotkb/Q14BK3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q14BK3-1" }, { "uniprot_canonical_ac": "O70491-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 670, "chemical_mass": 73775.0, "gene_names": "Stra6;Stra6", "protein_name": "Receptor for retinol uptake STRA6", "disease": [ { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111807", "name": "syndromic microphthalmia 9", "description": "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1.", "url": "https://disease-ontology.org/term/DOID:0111807", "evidence": [ { "id": "0111807", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111807" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 } ], "biological_process": [ { "name": "head morphogenesis", "id": "GO:0060323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060323", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "female genitalia development", "id": "GO:0030540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030540", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "nose morphogenesis", "id": "GO:0043585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043585", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": 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"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": 759, "start_aa": "Asn", "end_pos": 759, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn759", "evidence": [ { "id": "Q8CFG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CFG0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Asn769", "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": 769, "start_aa": "Asn", "end_pos": 769, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn769", "evidence": [ { "id": "Q8CFG0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8CFG0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "724", "end_pos": "724", "site_lbl": "Thr724", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NDT->NDM); glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165921451", "evidence": [ { "id": "rs3392547059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392547059" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "116", "end_pos": "116", "site_lbl": "Pro116", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165958860", "evidence": [ { "id": "rs3388615595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615595" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Trp118", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165958853", "evidence": [ { "id": "rs3388616322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616322" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Leu145", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165936532", "evidence": [ { "id": "rs3392461697", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392461697" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Val179", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165936430", "evidence": [ { "id": "rs3388614390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614390" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Lys182", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165936420", "evidence": [ { "id": "rs3388605656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605656" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "183", "end_pos": "183", "site_lbl": "His183", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165936417", "evidence": [ { "id": "rs1133219943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133219943" } ] }, { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165936416", "evidence": [ { "id": "rs1134508869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134508869" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165936417", "evidence": [ { "id": "rs1133219943", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133219943" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "219", "end_pos": "219", "site_lbl": "Val219", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165935457", "evidence": [ { "id": "rs3388611720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611720" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Lys258", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165931234", "evidence": [ { "id": "rs3388611722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611722" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "299", "end_pos": "299", "site_lbl": "Asp299", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165929074", "evidence": [ { "id": "rs5525838164", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525838164" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Val302", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165929066_165929067insACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388605670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605670" } ] }, { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165929066", "evidence": [ { "id": "rs3388614620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614620" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Thr304", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165929059", "evidence": [ { "id": "rs3388610662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388610662" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Tyr314", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165929028", "evidence": [ { "id": "rs3388609946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388609946" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "316", "end_pos": "316", "site_lbl": "Ala316", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165929023", "evidence": [ { "id": "rs3388608941", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608941" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Val345", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165928937", "evidence": [ { "id": "rs3388616368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616368" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Gly347", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165928930", "evidence": [ { "id": "rs3388614401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614401" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Phe35", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165974580", "evidence": [ { "id": "rs3388610740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388610740" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Ala454", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165925796", "evidence": [ { "id": "rs3388605627", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605627" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "457", "end_pos": "457", "site_lbl": "Gln457", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165925787", "evidence": [ { "id": "rs3388615591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615591" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Lys461", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924704", "evidence": [ { "id": "rs3392561974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392561974" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Glu466", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924689", "evidence": [ { "id": "rs3388614402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614402" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Gly488", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924622", "evidence": [ { "id": "rs5525821354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525821354" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Ser489", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924620", "evidence": [ { "id": "rs32832857", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32832857" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Ala491", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924614", "evidence": [ { "id": "rs3388615456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388615456" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Gly501", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924584", "evidence": [ { "id": "rs27295279", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27295279" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "515", "end_pos": "515", "site_lbl": "Gly515", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165924541", "evidence": [ { "id": "rs3388605661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605661" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "547", "end_pos": "547", "site_lbl": "Ile547", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923577", "evidence": [ { "id": "rs3388614453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614453" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Asp550", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923569", "evidence": [ { "id": "rs232277422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232277422" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "560", "end_pos": "560", "site_lbl": "Thr560", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923539", "evidence": [ { "id": "rs3388614616", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614616" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Arg565", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923524", "evidence": [ { "id": "rs3392515695", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Asp621", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923263", "evidence": [ { "id": "rs3392561933", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392561933" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Leu622", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923260", "evidence": [ { "id": "rs3388598973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388598973" } ] }, { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system.", "url": "https://disease-ontology.org/term/DOID:10273", "evidence": [ { "id": "10273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ], "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: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: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: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:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused 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"https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "positive regulation of synapse assembly", "id": "GO:0051965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051965", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell migration", "id": "GO:0010596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010596", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell migration", "id": "GO:0014912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014912", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative chemotaxis", "id": "GO:0050919", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050919", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell chemotaxis", "id": "GO:0071672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071672", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "cellular response to heparin", "id": "GO:0071504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071504", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of cellular response to growth factor stimulus", "id": "GO:0090288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090288", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "chemorepulsion involved in postnatal olfactory bulb interneuron migration", "id": "GO:0021836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021836", 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"database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "glycogen metabolic process", "id": "GO:0005977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005977", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "regulation of MAPK cascade", "id": "GO:0043408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043408", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q7TNL3", "url": "https://www.uniprot.org/uniprotkb/Q7TNL3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q7TNL3-1" }, { "uniprot_canonical_ac": "P59941-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 334, "chemical_mass": 36920.0, "gene_names": "Sirt6;2810449N18Rik;Sir2l6;Sirt6;mSIRT6", "protein_name": "NAD-dependent protein deacylase sirtuin-6", "disease": [ { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "cellular response to angiotensin", "id": "GO:1904385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904385", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "pericentric heterochromatin formation", "id": "GO:0031508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031508", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of stem cell population maintenance", "id": "GO:1902459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902459", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "cellular response to endothelin", "id": "GO:1990859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990859", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "subtelomeric heterochromatin formation", "id": "GO:0031509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031509", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of protein export from nucleus", "id": "GO:0046827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046827", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of blood vessel branching", "id": "GO:1905555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905555", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of glycolytic process", "id": "GO:0045820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045820", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "regulation of protein secretion", "id": "GO:0050708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050708", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "regulation of protein localization to plasma membrane", "id": "GO:1903076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903076", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of gene expression, epigenetic", "id": "GO:0045814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045814", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "protein delipidation", "id": "GO:0051697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051697", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of cellular senescence", "id": "GO:2000774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000774", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "protein deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of stem cell differentiation", "id": "GO:2000738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000738", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "post-embryonic cardiac muscle cell growth involved in heart morphogenesis", "id": "GO:0003247", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003247", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "regulation of lipid catabolic process", "id": "GO:0050994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050994", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance", "id": "GO:0032206", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032206", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "protein poly-ADP-ribosylation", "id": "GO:0070212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070212", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "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": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of D-glucose import", "id": "GO:0046325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046325", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "negative regulation of protein localization to chromatin", "id": "GO:0120186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120186", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "positive regulation of protein localization to chromatin", "id": "GO:0120187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120187", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "ketone biosynthetic process", "id": "GO:0042181", "url": 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"https://www.uniprot.org/uniprotkb/Q925N1" } ], "pmid": "" } ], "biological_process": [ { "name": "amino acid transport", "id": "GO:0006865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006865", "evidence": [ { "database": "UniProtKB", "id": "Q925N1", "url": "https://www.uniprot.org/uniprotkb/Q925N1" } ], "pmid": "" }, { "name": "mitochondrial transmembrane transport", "id": "GO:1990542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990542", "evidence": [ { "database": "UniProtKB", "id": "Q925N1", "url": "https://www.uniprot.org/uniprotkb/Q925N1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q925N1-1" }, { "uniprot_canonical_ac": "Q8VDS8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 334, "chemical_mass": 38381.0, "gene_names": "Stx18;1810035L21Rik;4933425D03Rik;Stx18", "protein_name": "Syntaxin-18", "disease": [], "biological_process": [ { "name": "positive regulation of organelle assembly", "id": "GO:1902117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902117", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane organization", "id": "GO:0090158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090158", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "positive regulation of ER to Golgi vesicle-mediated transport", "id": "GO:1902953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902953", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "SNARE complex", "id": "GO:0031201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031201", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" }, { "name": "SNAP receptor activity", "id": "GO:0005484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005484", "evidence": [ { "database": "UniProtKB", "id": "Q8VDS8", "url": "https://www.uniprot.org/uniprotkb/Q8VDS8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8VDS8-1" }, { 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"" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q6JHY2", "url": "https://www.uniprot.org/uniprotkb/Q6JHY2" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": 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} ] } ] }, { "uniprot_canonical_ac": "Q64685-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Glu248", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "23173662", "evidence": [ { "id": "rs3389378008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389378008" } ] } ] }, { "uniprot_canonical_ac": "Q64685-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Ala261", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "23173701", "evidence": [ { "id": "rs3389402772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389402772" } ] } ] }, { "uniprot_canonical_ac": "Q64685-1", "start_pos": "281", "end_pos": "281", 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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: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: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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": 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"weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046425", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "O35716", "url": "https://www.uniprot.org/uniprotkb/O35716" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": 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"reference_species": "Mus musculus [10090]" } ], "length": 216, "chemical_mass": 24716.0, "gene_names": "Gh1;Gh1;Ghb1;Gh", "protein_name": "Somatotropin", "disease": [ { "disease_id": "DOID:0050167", "name": "autoimmune polyendocrine syndrome type 1", "description": "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.", "url": "https://disease-ontology.org/term/DOID:0050167", "evidence": [ { "id": "0050167", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050167" } ], "weight": 0.0 }, { "disease_id": "DOID:0050328", "name": "congenital hypothyroidism", "description": "A hypothyroidism that is present at birth.", "url": "https://disease-ontology.org/term/DOID:0050328", "evidence": [ { "id": "0050328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050328" } ], "weight": 0.0 }, { 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "weight": 0.0 }, { "disease_id": "DOID:1339", "name": "Diamond-Blackfan anemia", "description": "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction.", "url": "https://disease-ontology.org/term/DOID:1339", "evidence": [ { "id": "1339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1339" } ], "weight": 0.0 }, { "disease_id": "DOID:2355", "name": "anemia", "description": "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.", "url": "https://disease-ontology.org/term/DOID:2355", "evidence": [ { "id": "2355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2355" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9409", "name": "diabetes insipidus", "description": "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration.", "url": "https://disease-ontology.org/term/DOID:9409", "evidence": [ { "id": "9409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9409" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to alkaline pH", "id": "GO:0071469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071469", 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"P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "cellular response to thyroid hormone stimulus", "id": "GO:0097067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097067", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "positive regulation of steroid hormone biosynthetic process", "id": "GO:0090031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090031", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "regulation of response to nutrient levels", "id": "GO:0032107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032107", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "hormone activity", "id": "GO:0005179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005179", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" }, { "name": "growth hormone receptor binding", "id": "GO:0005131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005131", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P06880-1", "start_pos": "131", "end_pos": "131", "site_lbl": "Ser131", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P06880", "url": "https://www.uniprot.org/uniprotkb/P06880" } ] } ] } ], "record_id": "P06880-1" }, { "uniprot_canonical_ac": "P07214-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P07214", "url": "https://www.uniprot.org/uniprotkb/P07214" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 302, "chemical_mass": 34450.0, "gene_names": "Sparc;BM-40;ON;Sparc", "protein_name": "SPARC", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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. 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Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. 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"weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658864", "evidence": [ { "id": "rs3549005760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549005760" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "232", "end_pos": "232", "site_lbl": "Phe232", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658860", "evidence": [ { "id": "rs3548998556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3548998556" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Arg237", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658845", "evidence": [ { "id": "rs578293566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578293566" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Ser241", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658832", "evidence": [ { "id": "rs3549059073", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549059073" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Arg269", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658657", "evidence": [ { "id": "rs3549004260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004260" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Arg274", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658642", "evidence": [ { "id": "rs3549146957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549146957" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Gln276", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658637", "evidence": [ { "id": "rs3389236147", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389236147" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Tyr287", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658602", "evidence": [ { "id": "rs3389220035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389220035" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Phe28", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116666145", "evidence": [ { "id": "rs3549059101", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549059101" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Arg319", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116658507", "evidence": [ { "id": "rs3549082939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549082939" } ] } ], "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Knockin mice display compromised mucus barriers, dysbiosis with reduced bacterial diversity, as well as susceptibility to intestinal inflammation.", "evidence": [ { "database": "UniProtKB", "id": "Q9QZ39", "url": "https://www.uniprot.org/uniprotkb/Q9QZ39" }, { "database": "PubMed", "id": "35303419", "url": "https://glygen.org/publication/PubMed/35303419" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Val324", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657929", "evidence": [ { "id": "rs3389223980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389223980" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Gly327", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657920", "evidence": [ { "id": "rs3389209185", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389209185" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Gln330", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657911", "evidence": [ { "id": "rs578847841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs578847841" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Pro33", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116666132", "evidence": [ { "id": "rs3549004339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004339" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Arg34", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116666127", "evidence": [ { "id": "rs3402851486", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402851486" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Arg356", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657833", "evidence": [ { "id": "rs3549005871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549005871" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Pro362", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657815", "evidence": [ { "id": "rs3389222879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389222879" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "369", "end_pos": "369", "site_lbl": "Tyr369", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657458", "evidence": [ { "id": "rs3389214730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389214730" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Gln389", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657397", "evidence": [ { "id": "rs579448630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs579448630" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Leu391", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657390", "evidence": [ { "id": "rs3549305367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549305367" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "394", "end_pos": "394", "site_lbl": "Thr394", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657382", "evidence": [ { "id": "rs3549218501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549218501" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Phe399", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657367", "evidence": [ { "id": "rs3402915571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402915571" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Gln404", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657162", "evidence": [ { "id": "rs3389228473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389228473" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Glu405", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657160", "evidence": [ { "id": "rs3549004087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549004087" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "409", "end_pos": "409", "site_lbl": "Asn409", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657149", "evidence": [ { "id": "rs586048846", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs586048846" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Cys40", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660194", "evidence": [ { "id": "rs265751688", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265751688" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Leu417", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116657123", "evidence": [ { "id": "rs3389155472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389155472" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Gln41", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660189", "evidence": [ { "id": "rs3389218374", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389218374" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Arg430", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656998", "evidence": [ { "id": "rs584562512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs584562512" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "441", "end_pos": "441", "site_lbl": "His441", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656965", "evidence": [ { "id": "rs3549040585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549040585" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "444", "end_pos": "444", "site_lbl": "Ile444", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656958", "evidence": [ { "id": "rs3549022855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549022855" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Trp44", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116660182", "evidence": [ { "id": "rs3549305328", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549305328" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "451", "end_pos": "451", "site_lbl": "Ala451", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656937", "evidence": [ { "id": "rs48468295", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48468295" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "459", "end_pos": "459", "site_lbl": "His459", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656913", "evidence": [ { "id": "rs3549029674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3549029674" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Leu460", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": 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"chr_id": "11", "chr_pos": "116656748", "evidence": [ { "id": "rs3389231330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389231330" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "475", "end_pos": "475", "site_lbl": "Gln475", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656715", "evidence": [ { "id": "rs47156596", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47156596" } ] } ] }, { "uniprot_canonical_ac": "Q9QZ39-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Arg476", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "11", "chr_pos": "116656712", "evidence": [ { "id": "rs581231037", "database": 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"uniprot_canonical_ac": "Q62252-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62252", "url": "https://www.uniprot.org/uniprotkb/Q62252" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 149, "chemical_mass": 17296.0, "gene_names": "Spa17;Sp17;Spa17", "protein_name": "Sperm surface protein Sp17", "disease": [ { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q62252", "url": 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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:11949", "name": "Creutzfeldt-Jakob disease", "description": "", "url": "https://disease-ontology.org/term/DOID:11949", "evidence": [ { "id": "11949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11949" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { 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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. 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"https://www.uniprot.org/uniprotkb/Q64704" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q64704", "url": "https://www.uniprot.org/uniprotkb/Q64704" } ], "pmid": "" }, { "name": "presynaptic membrane", "id": "GO:0042734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042734", "evidence": [ { "database": "UniProtKB", "id": "Q64704", "url": "https://www.uniprot.org/uniprotkb/Q64704" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "Q64704", "url": "https://www.uniprot.org/uniprotkb/Q64704" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "Q64704", "url": "https://www.uniprot.org/uniprotkb/Q64704" } ], "pmid": "" }, { 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"name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q9QXV8", "url": "https://www.uniprot.org/uniprotkb/Q9QXV8" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "Q9QXV8", "url": "https://www.uniprot.org/uniprotkb/Q9QXV8" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "Q9QXV8", "url": "https://www.uniprot.org/uniprotkb/Q9QXV8" } ], "pmid": "" }, { "name": "negative regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0042059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042059", 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"record_id": "Q9D9J2-1" }, { "uniprot_canonical_ac": "P36423-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P36423", "url": "https://www.uniprot.org/uniprotkb/P36423" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 533, "chemical_mass": 60391.0, "gene_names": "Tbxas1;CYP5A1;CYP5;Cyp5a1;Cyp5;THAS;TS;TXAS;TXS;Tbxas1", "protein_name": "Thromboxane-A synthase", "disease": [ { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID: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:0112251", "name": "Ghosal hematodiaphyseal syndrome", "description": "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "organelle membrane", "id": "GO:0031090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031090", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "dendrite membrane", "id": "GO:0032590", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032590", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "positive regulation of dendrite morphogenesis", "id": "GO:0050775", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050775", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", "url": "https://www.uniprot.org/uniprotkb/Q6DID7" } ], "pmid": "" }, { "name": "cementum mineralization", "id": "GO:0071529", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071529", "evidence": [ { "database": "UniProtKB", "id": "Q6DID7", 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"gene_names": "Slc30a5;1810010K08Rik;Slc30a5;ZNT5;ZTL1;ZnT-5;Znt5;Zntl1", "protein_name": "Proton-coupled zinc antiporter SLC30A5", "disease": [], "molecular_function": [ { "name": "zinc ion transmembrane transporter activity", "id": "GO:0005385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005385", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "zinc efflux transmembrane transporter activity", "id": "GO:0022883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022883", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "zinc:proton antiporter activity", "id": "GO:0140826", "url": 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"UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "trans-Golgi network membrane", "id": "GO:0032588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032588", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": "https://www.uniprot.org/uniprotkb/Q8R4H9" } ], "pmid": "" }, { "name": "ER to Golgi transport vesicle membrane", "id": "GO:0012507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012507", "evidence": [ { "database": "UniProtKB", "id": "Q8R4H9", "url": 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"https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "cellular response to epidermal growth factor stimulus", "id": "GO:0071364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071364", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "Cajal body organization", "id": "GO:0030576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030576", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "trophectodermal cell proliferation", "id": "GO:0001834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001834", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "DNA endoreduplication", "id": "GO:0042023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042023", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "pre-mRNA catabolic process", "id": "GO:1990261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990261", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "inner cell mass cell proliferation", "id": "GO:0001833", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001833", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "negative regulation of motor neuron apoptotic process", "id": "GO:2000672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000672", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "positive regulation of growth", "id": "GO:0045927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045927", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "apoptotic process involved in development", "id": "GO:1902742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902742", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": "https://www.uniprot.org/uniprotkb/Q62384" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62384", "url": 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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: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:649", "name": "prion disease", "description": "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.", "url": "https://disease-ontology.org/term/DOID:649", "evidence": [ { "id": "649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:649" } ], "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: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:8515", "name": "Cor pulmonale", "description": "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs.", "url": "https://disease-ontology.org/term/DOID:8515", "evidence": [ { "id": "8515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8515" } ], "weight": 0.0 }, { "disease_id": "DOID:8544", "name": "chronic fatigue syndrome", "description": "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions.", "url": "https://disease-ontology.org/term/DOID:8544", "evidence": [ { "id": "8544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8544" } ], "weight": 0.0 }, { "disease_id": "DOID:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9810", "name": "polyarteritis nodosa", "description": "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries.", "url": "https://disease-ontology.org/term/DOID:9810", "evidence": [ { "id": "9810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9810" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of microglial cell migration", "id": "GO:1904141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904141", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of actin filament bundle assembly", "id": "GO:0032233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032233", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta1 production", "id": "GO:0032914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032914", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of calcium-independent cell-cell adhesion", "id": "GO:0051041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051041", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "response to ischemia", "id": "GO:0002931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002931", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "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": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "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": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "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": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "O35188", "url": "https://www.uniprot.org/uniprotkb/O35188" } ], "pmid": "" }, { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060539", "evidence": [ { "database": "UniProtKB", "id": "O35437", "url": "https://www.uniprot.org/uniprotkb/O35437" } ], "pmid": "" }, { "name": "Sertoli cell differentiation", "id": "GO:0060008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060008", "evidence": [ { "database": "UniProtKB", "id": "O35437", "url": "https://www.uniprot.org/uniprotkb/O35437" } ], "pmid": "" }, { "name": "negative regulation of androgen receptor signaling pathway", "id": "GO:0060766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060766", "evidence": [ { "database": "UniProtKB", "id": "O35437", "url": "https://www.uniprot.org/uniprotkb/O35437" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "O35437", "url": "https://www.uniprot.org/uniprotkb/O35437" } ], "pmid": "" }, { "name": "gland development", "id": "GO:0048732", 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"name": "amino acid import across plasma membrane", "id": "GO:0089718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089718", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR6", "url": "https://www.uniprot.org/uniprotkb/Q9WTR6" } ], "pmid": "" }, { "name": "regulation of programmed cell death", "id": "GO:0043067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043067", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR6", "url": "https://www.uniprot.org/uniprotkb/Q9WTR6" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR6", "url": "https://www.uniprot.org/uniprotkb/Q9WTR6" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9WTR6", "url": "https://www.uniprot.org/uniprotkb/Q9WTR6" } ], "pmid": "" }, { "name": 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"comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NLT->ILT).", "chr_id": "5", "chr_pos": "113726169", "evidence": [ { "id": "rs3388766542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388766542" } ] } ] }, { "uniprot_canonical_ac": "D4PHA7-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Pro356", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Markedly decreases the expression of Neu5Ac8S epitope; when associated with A-359, A-361 and A-362.", "evidence": [ { "database": "UniProtKB", "id": "D4PHA7", "url": "https://www.uniprot.org/uniprotkb/D4PHA7" }, { "database": "PubMed", "id": "35864127", "url": "https://glygen.org/publication/PubMed/35864127" } ] } ] }, { "uniprot_canonical_ac": "D4PHA7-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Gly359", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Markedly decreases the expression of 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"" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" }, { "name": "phagophore assembly site membrane", "id": "GO:0034045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034045", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" }, { "name": "phagophore assembly site", "id": "GO:0000407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000407", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q9CR39", "url": "https://www.uniprot.org/uniprotkb/Q9CR39" } ], "pmid": "" }, { 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"https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomerase", "id": "GO:0032212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032212", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "Cajal body organization", "id": "GO:0030576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030576", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "positive regulation of establishment of protein localization to telomere", "id": "GO:1904851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904851", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "telomere maintenance via telomerase", "id": "GO:0007004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007004", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair via homologous recombination", "id": "GO:1905168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905168", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q8VC51", "url": "https://www.uniprot.org/uniprotkb/Q8VC51" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": 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} ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q91WL8", "url": "https://www.uniprot.org/uniprotkb/Q91WL8" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "Q91WL8", "url": "https://www.uniprot.org/uniprotkb/Q91WL8" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q91WL8", "url": "https://www.uniprot.org/uniprotkb/Q91WL8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q91WL8", "url": "https://www.uniprot.org/uniprotkb/Q91WL8" } ], 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38642.0, "gene_names": "Wdr53;1500002B03Rik;Wdr53", "protein_name": "WD repeat-containing protein 53", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DB94-1" }, { "uniprot_canonical_ac": "Q9EPK2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPK2", "url": "https://www.uniprot.org/uniprotkb/Q9EPK2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 347, "chemical_mass": 39377.0, "gene_names": "Rp2;Rp2h;Rp2", "protein_name": "Protein XRP2", "disease": [ { "disease_id": "DOID:0110415", "name": "retinitis pigmentosa 2", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3.", "url": "https://disease-ontology.org/term/DOID:0110415", "evidence": [ { "id": "0110415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110415" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "sperm end piece", "id": "GO:0097229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097229", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK2", "url": "https://www.uniprot.org/uniprotkb/Q9EPK2" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK2", "url": "https://www.uniprot.org/uniprotkb/Q9EPK2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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"cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "postsynaptic recycling endosome", "id": "GO:0098837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098837", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P59267", "url": "https://www.uniprot.org/uniprotkb/P59267" } ], "pmid": "" }, { "name": "Golgi 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