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"https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "positive regulation of DNA metabolic process", "id": "GO:0051054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051054", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "regulation of neuron apoptotic process", "id": "GO:0043523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043523", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity by regulation of protein phosphorylation", "id": "GO:0044387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044387", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "regulation of centriole replication", "id": "GO:0046599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046599", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "positive regulation of DNA-directed DNA polymerase activity", "id": "GO:1900264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900264", "evidence": [ { "database": "UniProtKB", "id": "Q61937", "url": "https://www.uniprot.org/uniprotkb/Q61937" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": 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PiRNA biogenesis in not affected but piRNAs fail to accumulate in the nucleus.", "evidence": [ { "database": "UniProtKB", "id": "Q14BI7", "url": "https://www.uniprot.org/uniprotkb/Q14BI7" }, { "database": "PubMed", "id": "28633017", "url": "https://glygen.org/publication/PubMed/28633017" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9WTX6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 776, "chemical_mass": 89692.0, "gene_names": "Cul1;Cul-1;Cul1", "protein_name": "Cullin-1", "disease": [], "cellular_component": [ { "name": "Parkin-FBXW7-Cul1 ubiquitin ligase complex", "id": "GO:1990452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990452", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": 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"pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "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": "Q9WTX6", "url": 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"https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "protein monoubiquitination", "id": "GO:0006513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006513", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" }, { "name": "ubiquitin ligase complex scaffold activity", "id": "GO:0160072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160072", "evidence": [ { "database": "UniProtKB", "id": "Q9WTX6", "url": "https://www.uniprot.org/uniprotkb/Q9WTX6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9D2Y4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Y4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 472, "chemical_mass": 54317.0, "gene_names": "Mlkl;9130019I15Rik;Mlkl", "protein_name": "Mixed lineage kinase domain-like protein", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Y4" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Y4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Y4" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9D2Y4", "url": "https://www.uniprot.org/uniprotkb/Q9D2Y4" } ], "pmid": "" } ], 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"length": 1162, "chemical_mass": 130789.0, "gene_names": "Lepr;B219;Db;LEP-R;LEPROT;Leprb;Lepr;Modb1;OB-RGRP;Obr;db;diabetes;obese-like;obl", "protein_name": "Leptin receptor", "disease": [ { "disease_id": "DOID:0050847", "name": "sleep apnea", "description": "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep.", "url": "https://disease-ontology.org/term/DOID:0050847", "evidence": [ { "id": "0050847", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050847" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10605", "name": "short bowel syndrome", "description": "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine.", "url": "https://disease-ontology.org/term/DOID:10605", "evidence": [ { "id": "10605", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10605" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4989", "name": "pancreatitis", "description": "A pancreas disease that is characterized by inflammation of the pancreas.", "url": "https://disease-ontology.org/term/DOID:4989", "evidence": [ { "id": "4989", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4989" } ], "weight": 0.0 }, { "disease_id": "DOID:5016", "name": "hepatocellular clear cell carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:5016", "evidence": [ { "id": "5016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5016" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9775", "name": "diastolic heart failure", "description": "", "url": "https://disease-ontology.org/term/DOID:9775", "evidence": [ { "id": "9775", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9775" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "sexual reproduction", "id": "GO:0019953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019953", "evidence": [ { "database": "UniProtKB", "id": "P48356", "url": "https://www.uniprot.org/uniprotkb/P48356" } ], "pmid": "" }, { "name": "negative regulation of eating behavior", "id": "GO:1903999", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "P-body", "id": "GO:0000932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000932", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "120", "end_pos": "120", "site_lbl": "Ser120", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PRO", "id": "Q8K3Y3", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q8K3Y3" }, { "database": "iPTMnet", "id": "Q8K3Y3", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8K3Y3" }, { "database": "PubMed", "id": "28179426", "url": "https://glygen.org/publication/PubMed/28179426" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "3", "end_pos": "3", "site_lbl": "Ser3", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Gly119", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Erroneous subcellular location; when associated with S-124. No positive effect on terminal myogenic differentiation; when associated with S-124.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Pro124", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Erroneous subcellular location; when associated with R-119. No positive effect on terminal myogenic differentiation; when associated with R-119.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Cys142", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "No effect on subcellular location; when associated with 44-C--F-47. Normal terminal myogenic differentiation; when associated with 44-C--F-47.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Gly42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Erroneous subcellular location. No positive effect on terminal myogenic differentiation.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "81", "end_pos": "81", "site_lbl": "Met81", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Erroneous subcellular location; when associated with Q-85. No positive effect on terminal myogenic differentiation; when associated with Q-85.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] }, { "uniprot_canonical_ac": "Q8K3Y3-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Arg85", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Erroneous subcellular location; when associated with I-81. No positive effect on terminal myogenic differentiation; when associated with I-81.", "evidence": [ { "database": "UniProtKB", "id": "Q8K3Y3", "url": "https://www.uniprot.org/uniprotkb/Q8K3Y3" }, { "database": "PubMed", "id": "17473174", "url": "https://glygen.org/publication/PubMed/17473174" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "O55203-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 373, "chemical_mass": 42691.0, "gene_names": "Ldb2;CLIM1;CLP-36;Clim1;Ldb2;Ldb3", "protein_name": "LIM domain-binding protein 2", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "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": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "regulation of kinase activity", "id": "GO:0043549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043549", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "positive regulation of cellular component biogenesis", "id": "GO:0044089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044089", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "cell leading edge", "id": "GO:0031252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031252", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "LIM domain binding", "id": "GO:0030274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030274", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "O55203", "url": "https://www.uniprot.org/uniprotkb/O55203" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9JKS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 723, "chemical_mass": 76432.0, "gene_names": "Ldb3;Kiaa0613;Ldb3;PDLIM6;ZASP", "protein_name": "LIM domain-binding protein 3", "disease": [ { "disease_id": "DOID:0050700", "name": "cardiomyopathy", "description": "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:0050700", "evidence": [ { "id": "0050700", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050700" } ], "weight": 0.0 }, { "disease_id": "DOID:0080092", "name": "myofibrillar myopathy 1", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.", "url": "https://disease-ontology.org/term/DOID:0080092", "evidence": [ { "id": "0080092", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080092" } ], "weight": 0.0 }, { "disease_id": "DOID:0080095", "name": "myofibrillar myopathy 4", "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10.", "url": "https://disease-ontology.org/term/DOID:0080095", "evidence": [ { "id": "0080095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080095" } ], "weight": 0.0 }, { "disease_id": "DOID:0081337", "name": "congenital myopathy", "description": "A myopathy that is characterized by hypotonia and weakness, usually present from birth.", "url": "https://disease-ontology.org/term/DOID:0081337", "evidence": [ { "id": "0081337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081337" } ], "weight": 0.0 }, { "disease_id": "DOID:0110423", "name": "dilated cardiomyopathy 1C", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2.", "url": "https://disease-ontology.org/term/DOID:0110423", "evidence": [ { "id": "0110423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110423" } ], "weight": 0.0 }, { "disease_id": "DOID:11720", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands.", "url": "https://disease-ontology.org/term/DOID:11720", "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ], "weight": 0.0 }, { "disease_id": "DOID:11722", "name": "myotonic dystrophy type 1", "description": "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.", "url": "https://disease-ontology.org/term/DOID:11722", "evidence": [ { "id": "11722", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11722" } ], "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:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "muscle alpha-actinin binding", "id": "GO:0051371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051371", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": "https://www.uniprot.org/uniprotkb/Q9JKS4" } ], "pmid": "" }, { "name": "cytoskeletal protein binding", "id": "GO:0008092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008092", "evidence": [ { "database": "UniProtKB", "id": "Q9JKS4", "url": 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9976", "evidence": [ { "id": "9976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9976" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "xenobiotic transmembrane transporter activity", "id": "GO:0042910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042910", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ATPase-coupled transmembrane transporter activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phosphatidylethanolamine flippase activity", "id": "GO:0090555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090555", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phosphatidylcholine floppase activity", "id": "GO:0090554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090554", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "efflux transmembrane transporter activity", "id": "GO:0015562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015562", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "carboxylic acid transmembrane transporter activity", "id": "GO:0046943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046943", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "ceramide floppase activity", "id": "GO:0099038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099038", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "floppase activity", "id": "GO:0140328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140328", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phosphatidylethanolamine floppase activity", "id": "GO:0140341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140341", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "intercellular canaliculus", "id": "GO:0046581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046581", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "external side of apical plasma membrane", "id": "GO:0098591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098591", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" } ], "biological_process": [ { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "phospholipid translocation", "id": "GO:0045332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045332", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "aldosterone secretion", "id": "GO:0035932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035932", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "proteasomal protein catabolic process", "id": "GO:0010498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010498", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "adult heart development", "id": "GO:0007512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007512", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P06795", "url": "https://www.uniprot.org/uniprotkb/P06795" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": 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"" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of muscle cell differentiation", "id": "GO:0051149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051149", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to alkaloid", "id": "GO:0071312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071312", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of cell cycle", "id": "GO:0045787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045787", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to peptide hormone stimulus", "id": "GO:0071375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071375", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", 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"evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "atrial septum development", "id": "GO:0003283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator", "id": "GO:1902254", "url": 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transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to ether", "id": "GO:0045472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045472", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "fibroblast activation", "id": "GO:0072537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072537", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "traversing start control point of mitotic cell cycle", "id": "GO:0007089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007089", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "regulation of protein catabolic process", "id": "GO:0042176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042176", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "cellular response to UV-C", "id": "GO:0071494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071494", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "response to water-immersion restraint stress", "id": "GO:1990785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990785", "evidence": [ { "database": "UniProtKB", "id": "P23804", "url": "https://www.uniprot.org/uniprotkb/P23804" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": 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"uniprot_canonical_ac": "Q9D4R2-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Arg193", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "84088982", "evidence": [ { "id": "rs3388981741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388981741" } ] } ] }, { "uniprot_canonical_ac": "Q9D4R2-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Phe210", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "84089033", "evidence": [ { "id": "rs3388993047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388993047" } ] } ] }, { "uniprot_canonical_ac": "Q9D4R2-1", "start_pos": "222", "end_pos": "222", "site_lbl": "Thr222", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "84089068", "evidence": [ { "id": "rs50156070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50156070" } ] } ] }, { "uniprot_canonical_ac": "Q9D4R2-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Leu286", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "8", "chr_pos": "84094821", "evidence": [ { "id": "rs3388995258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995258" } ] } ] }, { "uniprot_canonical_ac": "Q9D4R2-1", "start_pos": "350", "end_pos": "350", "site_lbl": "Ser350", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation 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"DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 } ], "biological_process": [ { "name": "voluntary musculoskeletal movement", "id": "GO:0050882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050882", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "anterograde axonal protein transport", "id": "GO:0099641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099641", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "neuron cellular homeostasis", "id": "GO:0070050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070050", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "positive regulation of protein localization to cell surface", "id": "GO:2000010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000010", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "negative regulation of microtubule depolymerization", "id": "GO:0007026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007026", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "regulation of microtubule depolymerization", "id": "GO:0031114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031114", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "retrograde axonal protein transport", "id": "GO:0099642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099642", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "negative regulation of protein localization to microtubule", "id": "GO:1902817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902817", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "dendritic shaft", "id": "GO:0043198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043198", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], "pmid": "" }, { "name": "presynaptic active zone", "id": "GO:0048786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048786", "evidence": [ { "database": "UniProtKB", "id": "Q9QYR6", "url": "https://www.uniprot.org/uniprotkb/Q9QYR6" } ], 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"pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of catalytic activity", "id": "GO:0043086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043086", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "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": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of calcium ion-dependent exocytosis", "id": "GO:0045955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045955", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of cell migration", "id": "GO:0030334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030334", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "glomerular mesangial cell development", "id": "GO:0072144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072144", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of programmed cell death", "id": "GO:0043069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043069", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "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": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "prostate gland epithelium morphogenesis", "id": "GO:0060740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060740", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "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": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion molecule production", "id": "GO:0060354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060354", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "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": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "chemical synaptic transmission, postsynaptic", "id": "GO:0099565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099565", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endoderm development", "id": "GO:0007492", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007492", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "distal tubule development", "id": "GO:0072017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072017", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "collecting duct development", "id": "GO:0072044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072044", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of extracellular matrix assembly", "id": "GO:1901201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901201", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "somatic stem cell division", "id": "GO:0048103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048103", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "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": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "apoptotic process involved in embryonic digit morphogenesis", "id": "GO:1902263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902263", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "luteolysis", "id": "GO:0001554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001554", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac right ventricle formation", "id": "GO:0003219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003219", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell migration involved in endocardial cushion formation", "id": "GO:0003273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003273", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of aorta morphogenesis", "id": "GO:1903849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903849", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "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": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of astrocyte differentiation", "id": "GO:0048711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048711", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of cell adhesion involved in heart morphogenesis", "id": "GO:0061344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061344", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation involved in heart valve morphogenesis", "id": "GO:0003252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003252", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "response to muramyl dipeptide", "id": "GO:0032495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032495", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "venous blood vessel morphogenesis", "id": "GO:0048845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048845", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte differentiation", "id": "GO:0045618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045618", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte differentiation", "id": "GO:0048715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048715", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "auditory receptor cell fate commitment", "id": "GO:0009912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009912", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of transcription of Notch receptor target", "id": "GO:0007221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007221", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "coronary sinus valve morphogenesis", "id": "GO:0003182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003182", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix constituent secretion", "id": "GO:0003332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003332", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of cardiac epithelial to mesenchymal transition", "id": "GO:0062043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062043", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in morphogenesis", "id": "GO:1902339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902339", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of inner ear auditory receptor cell differentiation", "id": "GO:0045607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045607", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "arterial endothelial cell differentiation", "id": "GO:0060842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060842", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell development", "id": "GO:0060948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060948", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of pro-B cell differentiation", "id": "GO:2000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000974", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "atrioventricular node development", "id": "GO:0003162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003162", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "growth involved in heart morphogenesis", "id": "GO:0003241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003241", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell differentiation", "id": "GO:0051152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051152", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardium morphogenesis", "id": "GO:0003160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003160", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "coronary vein morphogenesis", "id": "GO:0003169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003169", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac chamber formation", "id": "GO:0003207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003207", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cardiac right atrium morphogenesis", "id": "GO:0003213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003213", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "foregut morphogenesis", "id": "GO:0007440", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007440", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell differentiation in spinal cord", "id": "GO:0021515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021515", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060768", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "venous endothelial cell differentiation", "id": "GO:0060843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060843", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endocardial cell differentiation", "id": "GO:0060956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060956", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion mediated by cadherin", "id": "GO:2000048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000048", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis", "id": "GO:2001027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001027", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "interleukin-17-mediated signaling pathway", "id": "GO:0097400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097400", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "T-helper 17 type immune response", "id": "GO:0072538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072538", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "cell periphery", "id": "GO:0071944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071944", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "ruffle", "id": "GO:0001726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001726", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "MAML1-RBP-Jkappa- ICN1 complex", "id": "GO:0002193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002193", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "Schaffer collateral - CA1 synapse", "id": "GO:0098685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098685", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "CSL-Notch-Mastermind transcription factor complex", "id": "GO:1990433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990433", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0140537", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Ser1027", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 1027, "start_aa": "Ser", "end_pos": 1027, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1027", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ], 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No effect on RFNG-, LFNG- and MFNG-mediated enhancement of its activation by DLL1. Decrease in LFNG- and MFNG-mediated inhibition of its activation by JAG1. 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No significant effect on RFNG-, LFNG- and MFNG-mediated enhancement of its activation by DLL1. Decrease in LFNG- and MFNG-mediated inhibition of its activation by JAG1. Significant decrease in LFNG- and MFNG-mediated inhibition of its activation by JAG1; when associated with V-1402.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Thr311", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (Fuc...) threonine;O-fucosylation", "icn3d_view": {}, "start_pos": 311, "start_aa": "Thr", "end_pos": 311, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr311", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Significant loss of binding and activation by DLL1 or JAG1. 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Decreased localization to the plasma membrane; when associated with A-435.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" }, { "database": "PubMed", "id": "30127001", "url": "https://glygen.org/publication/PubMed/30127001" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Ser341", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 341, "start_aa": "Ser", "end_pos": 341, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser341", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "21757702", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Thr349", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (Fuc...) threonine;O-fucosylation", "icn3d_view": {}, "start_pos": 349, "start_aa": "Thr", "end_pos": 349, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr349", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Reduced binding and activation by JAG1 but not DLL1. Decrease in MFNG-mediated enhancement of its activation by DLL1.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Ser378", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 378, "start_aa": "Ser", "end_pos": 378, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser378", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": 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"https://glygen.org/publication/PubMed/30016717" }, { "id": "Q01705", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q01705" }, { "id": "33789105", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33789105" }, { "id": "24730386", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24730386" }, { "id": "22310717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22310717" }, { "id": "24573683", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24573683" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" }, { "id": "37838775", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37838775" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "38359610", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38359610" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "26192747", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26192747" }, { "id": "38474544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38474544" }, { "id": "28395734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28395734" }, { "id": "35290457", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35290457" }, { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Asn41", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { 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"Ser435", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "30127001", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30127001" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on localization to the plasma membrane. No effect on binding and activation by DLL1. Decreased localization to the plasma membrane; when associated with V-311.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "30127001", "url": "https://glygen.org/publication/PubMed/30127001" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Thr445", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 445, "start_aa": "Thr", "end_pos": 445, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr445", "evidence": [ { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 458, "start_aa": "Ser", "end_pos": 458, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser458", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" }, { "id": "5KY8", "database": "PDB", "url": "https://www.rcsb.org/structure/5KY8" }, { "id": "5KY8", "database": "PDB", "url": "https://www.rcsb.org/structure/5KY8" }, { "id": "5KY8|B|458", "database": "", "url": "" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "21757702", "url": "https://glygen.org/publication/PubMed/21757702" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "466", "end_pos": "466", "site_lbl": "Thr466", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G26238GL", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 466, "start_aa": "Thr", "end_pos": 466, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr466", "evidence": [ { "id": "2RQZ", "database": "PDB", "url": "https://www.rcsb.org/structure/2RQZ" }, { "id": "2RQZ", "database": "PDB", "url": "https://www.rcsb.org/structure/2RQZ" }, { "id": "2RQZ|A|15", "database": "", "url": "" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (Fuc...) threonine;O-fucosylation", "icn3d_view": {}, "start_pos": 466, "start_aa": "Thr", "end_pos": 466, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr466", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "21757702", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21757702" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" }, { "id": "2RR2", "database": "PDB", "url": "https://www.rcsb.org/structure/2RR2" }, { "id": "2RR2", "database": "PDB", "url": "https://www.rcsb.org/structure/2RR2" }, { "id": "2RR2|A|15", "database": "", "url": "" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Reduced binding and activation by DLL1 but not JAG1. Decrease in RFNG- and LFNG-mediated enhancement of its activation by DLL1. Loss of RFNG-mediated enhancement of its activation by JAG1. Significant loss of binding and activation by DLL1 or JAG1 and complete loss of RFNG- and LFNG-mediated enhancement of its activation by DLL1; when associated with V-311.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "496", "end_pos": "496", "site_lbl": "Ser496", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 496, "start_aa": "Ser", "end_pos": 496, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser496", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": 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"start_aa": "Thr", "end_pos": 559, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr559", "evidence": [ { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Thr596", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 596, "start_aa": "Thr", "end_pos": 596, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr596", "evidence": [ { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": 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"relation": "attached", "comment": "O-linked (GlcNAc) threonine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 900, "start_aa": "Thr", "end_pos": 900, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr900", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Ser921", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-fucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Fuc) serine;O-fucosylation", "icn3d_view": {}, "start_pos": 921, "start_aa": "Ser", "end_pos": 921, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser921", "evidence": [ { "id": "Q01705", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q01705#ptm_processing" }, { "id": "28089369", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "30016717", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30016717" }, { "id": "Q01705", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q01705" }, { "id": "33789105", "database": 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/38474544" }, { "id": "28395734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28395734" }, { "id": "35290457", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35290457" }, { "id": "30018219", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30018219" }, { "id": "Q01705", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "951", "end_pos": "951", "site_lbl": "Ser951", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-glucosylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (Glc...) serine;O-glucosylation", "icn3d_view": {}, "start_pos": 951, "start_aa": "Ser", "end_pos": 951, "end_aa": "Ser", "residue": "Ser", 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"sequence_org": "T", "sequence_mut": "V", "comment": "Reduced binding and activation by DLL1 but not JAG1. No effect on RFNG-, LFNG- and MFNG-mediated enhancement of its activation by DLL1. No effect on LFNG- and MFNG-mediated inhibition of its activation by JAG1.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "28089369", "url": "https://glygen.org/publication/PubMed/28089369" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "2152", "end_pos": "2152", "site_lbl": "Ser2152", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q01705", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01705" }, { "database": "PubMed", "id": "27281612", "url": "https://glygen.org/publication/PubMed/27281612" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "110", "end_pos": "110", "site_lbl": "Pro110", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "2", "chr_pos": "26375273", "evidence": [ { "id": "rs3388530646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388530646" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1153", "end_pos": "1153", "site_lbl": "Pro1153", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NPC->NLC).", "chr_id": "2", "chr_pos": "26360886", "evidence": [ { "id": "rs3388536934", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388536934" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Ser890", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NGS->NGN).", "chr_id": "2", "chr_pos": "26363764", "evidence": [ { "id": "rs3540203829", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3540203829" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "926", "end_pos": "926", "site_lbl": "Ile926", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (INT->NNT).", "chr_id": "2", "chr_pos": "26362988", "evidence": [ { "id": "rs3388540399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388540399" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1675", "end_pos": "1675", "site_lbl": "Cys1675", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Produces an activated, ligand-independent molecule; when associated with S-1682.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "10882062", "url": "https://glygen.org/publication/PubMed/10882062" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1682", "end_pos": "1682", "site_lbl": "Cys1682", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Produces an activated, ligand-independent molecule; when associated with S-1675.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "10882062", "url": "https://glygen.org/publication/PubMed/10882062" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1744", "end_pos": "1744", "site_lbl": "Val1744", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "NICD processing severely reduced.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "1945", "end_pos": "1945", "site_lbl": "Asn1945", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Reduced ability to promote HIF1AN-dependent 2-oxoglutarate decarboxylation and greatly reduced transactivation capacity. Abolished ability to promote HIF1AN-dependent 2-oxoglutarate decarboxylation; when associated with G-2012. Almost abolished transactivation capacity; when associated with A-2012.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "18299578", "url": "https://glygen.org/publication/PubMed/18299578" }, { "database": "PubMed", "id": "17573339", "url": "https://glygen.org/publication/PubMed/17573339" } ] } ] }, { "uniprot_canonical_ac": "Q01705-1", "start_pos": "2012", "end_pos": "2012", "site_lbl": "Asn2012", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Slightly reduced ability to promote HIF1AN-dependent 2-oxoglutarate decarboxylation. 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Abolished ability to promote HIF1AN-dependent 2-oxoglutarate decarboxylation; when associated with A-1945.", "evidence": [ { "database": "UniProtKB", "id": "Q01705", "url": "https://www.uniprot.org/uniprotkb/Q01705" }, { "database": "PubMed", "id": "18299578", "url": "https://glygen.org/publication/PubMed/18299578" }, { "database": "PubMed", "id": "17573339", "url": "https://glygen.org/publication/PubMed/17573339" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q6A037-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6A037", "url": "https://www.uniprot.org/uniprotkb/Q6A037" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 893, "chemical_mass": 99147.0, "gene_names": "N4bp1;Kiaa0615;N4bp1", "protein_name": "NEDD4-binding protein 1", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q6A037", "url": "https://www.uniprot.org/uniprotkb/Q6A037" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q6A037", "url": "https://www.uniprot.org/uniprotkb/Q6A037" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q6A037", "url": "https://www.uniprot.org/uniprotkb/Q6A037" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q6A037", "url": "https://www.uniprot.org/uniprotkb/Q6A037" } ], "pmid": "" } ], "biological_process": [ { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { 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"UniProtKB", "id": "O70372", "url": "https://www.uniprot.org/uniprotkb/O70372" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "697", "end_pos": "697", "site_lbl": "Tyr697", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "O70372", "url": "https://www.uniprot.org/uniprotkb/O70372" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Lys294", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (KVS->NVS); glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776132", "evidence": [ { "id": "rs3389295819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295819" } ] }, { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of 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markers.", "chr_id": "13", "chr_pos": "73790133", "evidence": [ { "id": "rs3389304586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389304586" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1014", "end_pos": "1014", "site_lbl": "Phe1014", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796094", "evidence": [ { "id": "rs3389276708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276708" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1017", "end_pos": "1017", "site_lbl": "Arg1017", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796104", "evidence": [ { "id": "rs49938708", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49938708" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1027", "end_pos": "1027", "site_lbl": "Gly1027", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796133", "evidence": [ { "id": "rs49484392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49484392" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1029", "end_pos": "1029", "site_lbl": "Ile1029", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796139", "evidence": [ { "id": "rs3389250576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250576" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1052", "end_pos": "1052", "site_lbl": "Ser1052", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796425", "evidence": [ { "id": "rs3389250566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250566" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1053", "end_pos": "1053", "site_lbl": "Gly1053", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796427", "evidence": [ { "id": "rs3389288586", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389288586" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1074", "end_pos": "1074", "site_lbl": "Ala1074", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73796490", "evidence": [ { "id": "rs47918385", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47918385" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1091", "end_pos": "1091", "site_lbl": "Lys1091", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73797035", "evidence": [ { "id": "rs3389292984", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292984" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "1099", "end_pos": "1099", "site_lbl": "Glu1099", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73797058", "evidence": [ { "id": "rs3389250605", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250605" } ] }, { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73797059", "evidence": [ { "id": "rs3389306893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389306893" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Met113", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775587", "evidence": [ { "id": "rs3389285719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285719" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ile128", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775633", "evidence": [ { "id": "rs47816597", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47816597" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Trp137", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775661", "evidence": [ { "id": "rs3389294031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294031" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Val170", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775758", "evidence": [ { "id": "rs3389258700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389258700" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "198", "end_pos": "198", "site_lbl": "Val198", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775842", "evidence": [ { "id": "rs246322005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246322005" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "199", "end_pos": "199", "site_lbl": "Gly199", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775846", "evidence": [ { "id": "rs47035940", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47035940" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Gln210", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775878", "evidence": [ { "id": "rs3389288613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389288613" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "213", "end_pos": "213", "site_lbl": "Ser213", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775888", "evidence": [ { "id": "rs3389300505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300505" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Arg216", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775897", "evidence": [ { "id": "rs47808416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47808416" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "217", "end_pos": "217", "site_lbl": "Gln217", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775901", "evidence": [ { "id": "rs3389292979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292979" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Lys221", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775911", "evidence": [ { "id": "rs3550398730", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550398730" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Lys246", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775988", "evidence": [ { "id": "rs3389276634", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276634" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "268", "end_pos": "268", "site_lbl": "Ser268", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776053", "evidence": [ { "id": "rs3404332831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404332831" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Val304", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776161", "evidence": [ { "id": "rs242338484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs242338484" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Gly32", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775242", "evidence": [ { "id": "rs3389219891", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389219891" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "388", "end_pos": "388", "site_lbl": "Ser388", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776412", "evidence": [ { "id": "rs3389291125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389291125" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Arg443", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776577", "evidence": [ { "id": "rs229270797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229270797" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Cys460", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776629", "evidence": [ { "id": "rs239228712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs239228712" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "482", "end_pos": "482", "site_lbl": "Lys482", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776694", "evidence": [ { "id": "rs3389250575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389250575" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Asp506", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776768", "evidence": [ { "id": "rs3404460696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404460696" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "509", "end_pos": "509", "site_lbl": "Trp509", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73776775", "evidence": [ { "id": "rs3389266393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389266393" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "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, stem cell markers.", "chr_id": "13", "chr_pos": "73782271", "evidence": [ { "id": "rs3389300512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389300512" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Phe536", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73782333", "evidence": [ { "id": "rs3389276656", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276656" }, { "id": "rs3389295778", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295778" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "583", "end_pos": "583", "site_lbl": "Leu583", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783547", "evidence": [ { "id": "rs3389276659", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276659" } ] }, { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783546", "evidence": [ { "id": "rs3389276694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276694" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Leu591", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783570", "evidence": [ { "id": "rs47309231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47309231" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Val596", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783585", "evidence": [ { "id": "rs3389219968", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389219968" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "59", "end_pos": "59", "site_lbl": "His59", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73775324", "evidence": [ { "id": "rs263642245", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs263642245" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "621", "end_pos": "621", "site_lbl": "Arg621", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, stem cell markers.", "chr_id": "13", "chr_pos": "73783661", "evidence": [ { "id": "rs3389258745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389258745" } ] } ] }, { "uniprot_canonical_ac": "O70372-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Ile623", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary transition zone", "id": "GO:0035869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035869", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q6NWV3", "url": "https://www.uniprot.org/uniprotkb/Q6NWV3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "A2AG06-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", 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"A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "synaptonemal complex assembly", "id": "GO:0007130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007130", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "oocyte development", "id": "GO:0048599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048599", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "male meiosis I", "id": "GO:0007141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007141", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "chromosome organization involved in meiotic cell cycle", "id": "GO:0070192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070192", "evidence": [ { "database": "UniProtKB", "id": "A2AG06", "url": "https://www.uniprot.org/uniprotkb/A2AG06" } ], "pmid": "" }, { "name": "germline cell cycle switching, mitotic to meiotic cell cycle", "id": "GO:0051729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051729", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "Q3TRM8", "url": "https://www.uniprot.org/uniprotkb/Q3TRM8" } ], "pmid": "" }, { "name": "hexokinase activity", "id": "GO:0004396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004396", "evidence": [ { "database": "UniProtKB", "id": "Q3TRM8", "url": "https://www.uniprot.org/uniprotkb/Q3TRM8" } ], "pmid": "" }, { "name": "D-glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "Q3TRM8", "url": "https://www.uniprot.org/uniprotkb/Q3TRM8" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q3TRM8", "url": "https://www.uniprot.org/uniprotkb/Q3TRM8" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268001" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Asp202", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162065", "evidence": [ { "id": "rs3389259825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389259825" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Ile204", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162058", "evidence": [ { "id": "rs3389292371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389292371" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Cys235", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161321", "evidence": [ { "id": "rs3389295269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295269" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "23", "end_pos": "23", "site_lbl": "Val23", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55167170", "evidence": [ { "id": "rs232507841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232507841" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Val241", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161303", "evidence": [ { "id": "rs3389278236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389278236" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "242", "end_pos": "242", "site_lbl": "Asp242", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161224", "evidence": [ { "id": "rs3403432944", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403432944" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "247", "end_pos": "247", "site_lbl": "Ala247", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161209", "evidence": [ { "id": "rs3508030546", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3508030546" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Tyr249", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161204", "evidence": [ { "id": "rs3389286399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286399" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Glu251", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161197", "evidence": [ { "id": "rs3389280405", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389280405" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Arg254", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161189", "evidence": [ { "id": "rs29533853", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29533853" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "265", "end_pos": "265", "site_lbl": "Arg265", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161155", "evidence": [ { "id": "rs3550185899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550185899" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ser269", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161143", "evidence": [ { "id": "rs3389243052", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389243052" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Ile270", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161140", "evidence": [ { "id": "rs3389286535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286535" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Tyr276", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161123", "evidence": [ { "id": "rs226701144", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226701144" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Leu292", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161075", "evidence": [ { "id": "rs3389252594", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389252594" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "302", "end_pos": "302", "site_lbl": "Gln302", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55161043", "evidence": [ { "id": "rs3389283303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283303" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "308", "end_pos": "308", "site_lbl": "Ile308", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55160397", "evidence": [ { "id": "rs3389213618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213618" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Leu321", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55160357", "evidence": [ { "id": "rs3389252635", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389252635" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Leu35", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162579", "evidence": [ { "id": "rs3389283263", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283263" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "375", "end_pos": "375", "site_lbl": "Arg375", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159849", "evidence": [ { "id": "rs3389268000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268000" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Tyr384", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159987", "evidence": [ { "id": "rs49722114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49722114" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Arg430", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159849", "evidence": [ { "id": "rs3389268000", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268000" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "443", "end_pos": "443", "site_lbl": "Thr443", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159227", "evidence": [ { "id": "rs244787129", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs244787129" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Leu474", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159134", "evidence": [ { "id": "rs3550179682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550179682" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "495", "end_pos": "495", "site_lbl": "Met495", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159072", "evidence": [ { "id": "rs47248029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47248029" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Ile4", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55167227", "evidence": [ { "id": "rs3389285769", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285769" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "500", "end_pos": "500", "site_lbl": "Ala500", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55159057", "evidence": [ { "id": "rs49232243", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49232243" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "536", "end_pos": "536", "site_lbl": "Phe536", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158837", "evidence": [ { "id": "rs3389286529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286529" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "548", "end_pos": "548", "site_lbl": "Val548", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158801", "evidence": [ { "id": "rs3389286360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389286360" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "552", "end_pos": "552", "site_lbl": "Arg552", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158788", "evidence": [ { "id": "rs3550293961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550293961" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "556", "end_pos": "556", "site_lbl": "Gly556", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158777_55158778insTCAACCATCAC", "evidence": [ { "id": "rs3389213685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389213685" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "55", "end_pos": "55", "site_lbl": "Ser55", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162876", "evidence": [ { "id": "rs3389282275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282275" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "602", "end_pos": "602", "site_lbl": "Pro602", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158560", "evidence": [ { "id": "rs3389295222", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389295222" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Lys612", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55158529", "evidence": [ { "id": "rs3389278256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389278256" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "65", "end_pos": "65", "site_lbl": "Ser65", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162489", "evidence": [ { "id": "rs232784901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232784901" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162489", "evidence": [ { "id": "rs232784901", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232784901" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "676", "end_pos": "676", "site_lbl": "Arg676", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55156511", "evidence": [ { "id": "rs3389285824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389285824" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Arg71", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "13", "chr_pos": "55162828", "evidence": [ { "id": "rs3389278211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389278211" } ] } ] }, { "uniprot_canonical_ac": "Q3TRM8-1", "start_pos": "729", "end_pos": "729", 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"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:11717", "name": "neonatal diabetes mellitus", "description": "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.", "url": "https://disease-ontology.org/term/DOID:11717", "evidence": [ { "id": "11717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11717" } ], "weight": 0.0 }, { "disease_id": "DOID:13317", "name": "hyperinsulinemic hypoglycemia", "description": "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin.", "url": "https://disease-ontology.org/term/DOID:13317", "evidence": [ { "id": "13317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13317" } ], "weight": 0.0 }, { "disease_id": "DOID:2018", "name": "hyperinsulinism", "description": "", "url": "https://disease-ontology.org/term/DOID:2018", "evidence": [ { "id": "2018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2018" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 }, { "disease_id": "DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose.", "url": "https://disease-ontology.org/term/DOID:9993", "evidence": [ { "id": "9993", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "basal cortex", "id": "GO:0045180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045180", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "actin filament", "id": "GO:0005884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucokinase activity", "id": "GO:0004340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004340", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "fructokinase activity", "id": "GO:0008865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008865", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "mannokinase activity", "id": "GO:0019158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019158", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "ADP binding", "id": "GO:0043531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043531", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "hexokinase activity", "id": "GO:0004396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004396", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "D-glucose binding", "id": "GO:0005536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005536", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose sensor activity", "id": "GO:0141089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141089", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" } ], "biological_process": [ { "name": "NADP+ metabolic process", "id": "GO:0006739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006739", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "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": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "negative regulation of epinephrine secretion", "id": "GO:0032811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032811", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "regulation of insulin secretion", "id": "GO:0050796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050796", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose metabolic process", "id": "GO:0006006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006006", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cellular response to glucose starvation", "id": "GO:0042149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042149", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glycogen biosynthetic process", "id": "GO:0005978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005978", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "positive regulation of glycogen biosynthetic process", "id": "GO:0045725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045725", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "fructose 2,6-bisphosphate metabolic process", "id": "GO:0006003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006003", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "mannose metabolic process", "id": "GO:0006013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006013", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose catabolic process", "id": "GO:0006007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006007", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "cellular response to leptin stimulus", "id": "GO:0044320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044320", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "fructose 6-phosphate metabolic process", "id": "GO:0006002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006002", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "carbohydrate phosphorylation", "id": "GO:0046835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046835", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "glucose 6-phosphate metabolic process", "id": "GO:0051156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051156", "evidence": [ { "database": "UniProtKB", "id": "P52792", "url": "https://www.uniprot.org/uniprotkb/P52792" } ], "pmid": "" }, { "name": "regulation of glucose mediated signaling pathway", "id": "GO:1902659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902659", "evidence": [ { "database": 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"disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:633", "name": "myositis", "description": "A myopathy characterized by muscle inflammation.", "url": "https://disease-ontology.org/term/DOID:633", "evidence": [ { "id": "633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:633" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "mRNA stabilization", "id": "GO:0048255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048255", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "cardiac muscle contraction", "id": "GO:0060048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060048", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": "https://www.uniprot.org/uniprotkb/Q6PDM2" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "Q6PDM2", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "defense response to Gram-positive bacterium", "id": "GO:0050830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": 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inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "acute inflammatory response", "id": "GO:0002526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002526", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "protein secretion", "id": "GO:0009306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009306", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "interleukin-18-mediated signaling pathway", "id": "GO:0035655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035655", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "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": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of toll-like receptor signaling pathway", "id": "GO:0034122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034122", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of immune response", "id": "GO:0050777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050777", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "acute inflammatory response to antigenic stimulus", "id": "GO:0002438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002438", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "neutrophil-mediated killing of gram-positive bacterium", "id": "GO:0070946", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070946", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "necroptotic process", "id": "GO:0070266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070266", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "regulation of mucus secretion", "id": "GO:0070255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070255", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18-mediated signaling pathway", "id": "GO:2000494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000494", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "NLRP6 inflammasome complex assembly", "id": "GO:0140739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140739", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "host-mediated modulation of intestinal microbiota composition", "id": "GO:0048874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048874", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "signaling adaptor activity", "id": "GO:0035591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035591", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "lipopolysaccharide binding", "id": "GO:0001530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001530", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "lipoteichoic acid binding", "id": "GO:0070891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070891", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "vasopressin receptor activity", "id": "GO:0005000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005000", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "molecular condensate scaffold activity", "id": "GO:0140693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140693", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "canonical inflammasome complex", "id": "GO:0061702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061702", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "membraneless organelle", "id": "GO:0043228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043228", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" }, { "name": "NLRP6 inflammasome complex", "id": "GO:0140738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140738", "evidence": [ { "database": "UniProtKB", "id": "Q91WS2", "url": "https://www.uniprot.org/uniprotkb/Q91WS2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P35951-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 862, "chemical_mass": 94947.0, "gene_names": "Ldlr;Hlb301;Ldlr", "protein_name": "Low-density lipoprotein receptor", "disease": [ { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:10230", "name": "aortic atherosclerosis", "description": "An atherosclerosis of the aorta.", "url": "https://disease-ontology.org/term/DOID:10230", "evidence": [ { "id": "10230", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10230" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3345", "name": "xanthomatosis", "description": "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.", "url": "https://disease-ontology.org/term/DOID:3345", "evidence": [ { "id": "3345", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3345" } ], "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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of microglial cell activation", "id": "GO:1903979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903979", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of lysosomal protein catabolic process", "id": "GO:1905167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905167", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of triglyceride catabolic process", "id": "GO:0010898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010898", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of cholesterol metabolic process", "id": "GO:0090181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090181", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "phospholipid transport", "id": "GO:0015914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015914", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "intestinal cholesterol absorption", "id": "GO:0030299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030299", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of low-density lipoprotein particle clearance", "id": "GO:0010989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010989", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "low-density lipoprotein particle clearance", "id": "GO:0034383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034383", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "high-density lipoprotein particle clearance", "id": "GO:0034384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034384", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "long-term memory", "id": "GO:0007616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007616", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol transport", "id": "GO:0030301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030301", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cholesterol import", "id": "GO:0070508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070508", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of receptor recycling", "id": "GO:0001920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001920", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipoprotein catabolic process", "id": "GO:0042159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042159", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of protein metabolic process", "id": "GO:0051246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051246", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "response to caloric restriction", "id": "GO:0061771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061771", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis involved in cholesterol transport", "id": "GO:0090118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090118", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "plasma lipoprotein particle clearance", "id": "GO:0034381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034381", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of triglyceride biosynthetic process", "id": "GO:0010867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010867", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of amyloid fibril formation", "id": "GO:1905907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905907", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of phosphatidylcholine catabolic process", "id": "GO:0010899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010899", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of protein metabolic process", "id": "GO:0051248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051248", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of astrocyte activation", "id": "GO:0061889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061889", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "regulation of lipid catabolic process", "id": "GO:0050994", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050994", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of triglyceride metabolic process", "id": "GO:0090208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090208", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "positive regulation of catabolic process", "id": "GO:0009896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009896", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle receptor activity", "id": "GO:0030229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030229", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "low-density lipoprotein particle receptor activity", "id": "GO:0005041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005041", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "low-density lipoprotein particle binding", "id": "GO:0030169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030169", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P35951", "url": "https://www.uniprot.org/uniprotkb/P35951" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "IPAF inflammasome complex", "id": "GO:0072557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072557", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "detection of bacterium", "id": "GO:0016045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016045", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "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": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" }, { "name": "pyroptotic inflammatory response", "id": "GO:0070269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070269", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q3UP24-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Ser533", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "22885697", "url": "https://glygen.org/publication/PubMed/22885697" }, { "database": "PubMed", "id": "23765277", "url": "https://glygen.org/publication/PubMed/23765277" }, { "database": "iPTMnet", "id": "Q3UP24", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q3UP24" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolishes phosphorylation and prevents activation of caspase-1 and pyroptosis in response to S.typhimurium.", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "22885697", "url": "https://glygen.org/publication/PubMed/22885697" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimics phosphorylation; causes rapid macrophage pyroptosis without infection.", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "22885697", "url": "https://glygen.org/publication/PubMed/22885697" } ] } ] }, { "uniprot_canonical_ac": "Q3UP24-1", "start_pos": "443", "end_pos": "443", "site_lbl": "His443", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Constitutively active.", "evidence": [ { "database": "UniProtKB", "id": "Q3UP24", "url": "https://www.uniprot.org/uniprotkb/Q3UP24" }, { "database": "PubMed", "id": "23765277", "url": "https://glygen.org/publication/PubMed/23765277" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q505F1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 590, "chemical_mass": 65476.0, "gene_names": "Nr2c1;4831444H07Rik;80.3;Eenr;Nr2c1;TR2;Tr2-11;Tr2", "protein_name": "Nuclear receptor subfamily 2 group C member 1", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "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": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "positive regulation of retinoic acid receptor signaling pathway", "id": "GO:0048386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048386", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "185", "end_pos": "185", "site_lbl": "Ser185", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "16317770", "url": "https://glygen.org/publication/PubMed/16317770" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation and little effect on binding KAT2B. Some reduced DNA-binding. Greatly reduced DNA-binding, binding to KAT2B and activation of the RARB promoter; when associated with A-170.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "PubMed", "id": "16317770", "url": "https://glygen.org/publication/PubMed/16317770" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Ser203", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "208", "end_pos": "208", "site_lbl": "Thr208", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Thr210", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Abolishes sumoylation. No repression of OCT4 gene expression with or without retinoic acid and enhanced interaction with KAT2B and HDAC3. Abolishes interaction with HDAC3 and PML association; when associated with R-238.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] }, { "sequence_org": "T", "sequence_mut": "E", "comment": "Sumoylated. Repressed OCT4 gene expression. Enhanced interaction with KAT2B; when associated with R-238.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "461", "end_pos": "461", "site_lbl": "Ser461", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" }, { "database": "PubMed", "id": "16130175", "url": "https://glygen.org/publication/PubMed/16130175" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Little effect on PKC-stimulated protein stability nor on activation of RARB reporter.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] }, { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "568", "end_pos": "568", "site_lbl": "Ser568", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "iPTMnet", "id": "Q505F1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q505F1" }, { "database": "PubMed", "id": "16130175", "url": "https://glygen.org/publication/PubMed/16130175" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Greatly reduced PKC-stimulated protein stability and activation of RARB reporter.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] }, { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Lys167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on sumoylation.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "17187077", "url": "https://glygen.org/publication/PubMed/17187077" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "170", "end_pos": "170", "site_lbl": "Ser170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on sumoylation nor on DNA-binding and little effect on binding KAT2B. Greatly reduced DNA-binding, binding to KAT2B and activation of the RARB promoter; when associated with A-185.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "PubMed", "id": "16317770", "url": "https://glygen.org/publication/PubMed/16317770" } ] } ] }, { "uniprot_canonical_ac": "Q505F1-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Lys238", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes sumoylation. Strongly associated with PML nuclear bodies. No effect on activation of OCT4 but activation not suppressed by additional SUMO1. Increased binding to KAT2B and reduced binding to NRIP1. Abolishes PML association; when associated with A-210.", "evidence": [ { "database": "UniProtKB", "id": "Q505F1", "url": "https://www.uniprot.org/uniprotkb/Q505F1" }, { "database": "PubMed", "id": "18682553", "url": "https://glygen.org/publication/PubMed/18682553" }, { "database": "PubMed", "id": "17187077", "url": "https://glygen.org/publication/PubMed/17187077" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes sumoylation. No effect on activation of OCT4 but activation not suppressed by additional SUMO1. 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characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. 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"https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 }, { "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 microtubule polymerization or depolymerization", "id": "GO:0031110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031110", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of intracellular transport", "id": "GO:0032387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032387", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "mitochondrion transport along microtubule", "id": "GO:0047497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047497", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of establishment of protein localization to mitochondrion", "id": "GO:1903748", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903748", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "axo-dendritic transport", "id": "GO:0008088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008088", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "response to lead ion", "id": "GO:0010288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010288", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "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": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of superoxide anion generation", "id": "GO:0032930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032930", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "adult walking behavior", "id": "GO:0007628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007628", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial membrane potential", "id": "GO:0010917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010917", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of microtubule polymerization", "id": "GO:0031116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031116", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "axon extension", "id": "GO:0048675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048675", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial fission", "id": "GO:0090258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090258", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "negative regulation of tubulin deacetylation", "id": "GO:1904428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904428", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of calcium-mediated signaling", "id": "GO:0050848", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050848", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of long-term synaptic depression", "id": "GO:1900454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900454", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of protein localization to synapse", "id": "GO:1902474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902474", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "positive regulation of protein localization", "id": "GO:1903829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903829", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "regulation of microtubule-based movement", "id": "GO:0060632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060632", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "enzyme inhibitor activity", "id": "GO:0004857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004857", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "protein phosphatase 2A binding", "id": "GO:0051721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051721", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "lipoprotein particle binding", "id": "GO:0071813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071813", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule lateral binding", "id": "GO:0099609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099609", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P10637", "url": "https://www.uniprot.org/uniprotkb/P10637" } ], "pmid": "" }, { "name": "postsynaptic 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"UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" } ], "molecular_function": [ { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" }, { "name": "cyclin binding", "id": "GO:0030332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030332", "evidence": [ { "database": "UniProtKB", "id": "F2Z461", "url": "https://www.uniprot.org/uniprotkb/F2Z461" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q3U1G5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U1G5", "url": "https://www.uniprot.org/uniprotkb/Q3U1G5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], 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"batch.mouse.15" }, { "uniprot_canonical_ac": "Q80T19-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 83, "chemical_mass": 9410.0, "gene_names": "Hamp2;1810073K19Rik;HEPC2;Hamp2;Hepc2", "protein_name": "Hepcidin-2", "disease": [ { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0111032", "name": "hemochromatosis type 2B", "description": "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0111032", "evidence": [ { "id": "0111032", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111032" } ], "weight": 0.0 }, { "disease_id": 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"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:1340", "name": "pure red-cell aplasia", "description": "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow.", "url": "https://disease-ontology.org/term/DOID:1340", "evidence": [ { "id": "1340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1340" } ], "weight": 0.0 }, { "disease_id": "DOID:13619", "name": "extrahepatic cholestasis", "description": "A cholestasis resulting from causes located_in bile ducts outside the liver.", "url": "https://disease-ontology.org/term/DOID:13619", "evidence": [ { "id": "13619", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13619" } ], "weight": 0.0 }, { 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], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "positive regulation of receptor internalization", "id": "GO:0002092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002092", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "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": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "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": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "negative regulation of iron ion transmembrane transport", "id": "GO:0034760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034760", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "defense response to fungus", "id": "GO:0050832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050832", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "multicellular organismal-level iron ion homeostasis", "id": "GO:0060586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060586", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "positive regulation of protein polyubiquitination", "id": "GO:1902916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902916", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "negative regulation of iron export across plasma membrane", "id": "GO:1904039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904039", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "negative regulation of intestinal absorption", "id": "GO:1904479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904479", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" } ], "cellular_component": [ { "name": "apical cortex", "id": "GO:0045179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045179", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q80T19", "url": "https://www.uniprot.org/uniprotkb/Q80T19" } ], "pmid": "" }, { "name": "intercalated 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"site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 59, "start_aa": "Asn", "end_pos": 59, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn59", "evidence": [ { "id": "O09030", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O09030#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "O88786-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 383, "chemical_mass": 44483.0, "gene_names": "Il13ra2;CD213a2;IL-13R-alpha-2;Il13ra2", "protein_name": "Interleukin-13 receptor subunit alpha-2", "disease": [ { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous 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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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). 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It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor signaling pathway", "id": "GO:0007179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007179", "evidence": [ { "database": "UniProtKB", "id": "O88786", "url": "https://www.uniprot.org/uniprotkb/O88786" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": 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The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. 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The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "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: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 } ], "biological_process": [ { "name": "regulation of defense response to 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response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P01572", "url": "https://www.uniprot.org/uniprotkb/P01572" } ], "pmid": "" } ], 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "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: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 } ], "biological_process": [ { "name": "B cell activation involved in immune 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"GO:0043330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043330", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "humoral immune response", "id": "GO:0006959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006959", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "T cell activation involved in immune response", "id": "GO:0002286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002286", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" }, { "name": "natural killer cell activation involved in immune response", "id": "GO:0002323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002323", "evidence": [ { "database": "UniProtKB", "id": "P06799", "url": "https://www.uniprot.org/uniprotkb/P06799" } ], "pmid": "" } ], "cellular_component": [ { 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"P09025", "url": "https://www.uniprot.org/uniprotkb/P09025" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09025", "url": "https://www.uniprot.org/uniprotkb/P09025" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P09025", "url": "https://www.uniprot.org/uniprotkb/P09025" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P09092-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09092", "url": "https://www.uniprot.org/uniprotkb/P09092" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 26335.0, "gene_names": "Hoxa6;Hox-1.2;Hoxa-6;Hoxa6", "protein_name": "Homeobox protein Hox-A6", "disease": [ { "disease_id": "DOID:1240", "name": "leukemia", "description": "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P09092", "url": "https://www.uniprot.org/uniprotkb/P09092" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P09092", "url": "https://www.uniprot.org/uniprotkb/P09092" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": 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"name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P41139", "url": "https://www.uniprot.org/uniprotkb/P41139" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": 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[ { "id": "rs3411928354", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411928354" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Ser330", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20946366", "evidence": [ { "id": "rs3389007566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007566" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Ala360", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20946456", "evidence": [ { "id": "rs231468234", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q60625-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Ala386", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20946534", "evidence": [ { "id": "rs243460473", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243460473" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Gln398", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20946570", "evidence": [ { "id": "rs3389002736", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002736" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "403", "end_pos": "403", "site_lbl": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995078" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "631", "end_pos": "631", "site_lbl": "Ser631", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20947994", "evidence": [ { "id": "rs237054434", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237054434" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "633", "end_pos": "633", "site_lbl": "Thr633", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20948000", "evidence": [ { "id": "rs3389020882", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q60625-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Gly761", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20948931", "evidence": [ { "id": "rs3388995036", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995036" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Pro774", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20948969", "evidence": [ { "id": "rs3389026515", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389026515" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Cys812", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949083", "evidence": [ { "id": "rs3389019706", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019706" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "832", "end_pos": "832", "site_lbl": "Pro832", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949937", "evidence": [ { "id": "rs3389019613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019613" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Ala845", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949976", "evidence": [ { "id": "rs3389002728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002728" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Ala850", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/i-type/non-siglec.", "chr_id": "9", "chr_pos": "20949991", "evidence": [ { "id": "rs3389029938", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389029938" } ] } ] }, { "uniprot_canonical_ac": "Q60625-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Thr861", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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[10090]" } ], "length": 263, "chemical_mass": 28061.0, "gene_names": "Il15ra;IL-15RA;Il15ra", "protein_name": "Interleukin-15 receptor subunit alpha", "disease": [ { "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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q60819", "url": "https://www.uniprot.org/uniprotkb/Q60819" } ], "pmid": "" }, { "name": "interleukin-15 receptor complex", "id": 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"rs3389427277", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389427277" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Arg264", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068562", "evidence": [ { "id": "rs3407517460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407517460" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Val272", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068538", "evidence": [ { "id": "rs3389452456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389452456" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ser283", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068505", "evidence": [ { "id": "rs3389436241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436241" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Phe294", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18068471", "evidence": [ { "id": "rs3389383971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389383971" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "333", "end_pos": "333", "site_lbl": "Lys333", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18067891", "evidence": [ { "id": "rs3389438922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438922" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "353", "end_pos": "353", "site_lbl": "Ser353", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18067830", "evidence": [ { "id": "rs3389435343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435343" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "358", "end_pos": "358", "site_lbl": "Thr358", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18067816", "evidence": [ { "id": "rs3389438921", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438921" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Ala40", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18070802", "evidence": [ { "id": "rs16783666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs16783666" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Thr423", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064371", "evidence": [ { "id": "rs3389384049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389384049" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Gly431", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "17", "chr_pos": "18064346_18064347insACACTACCTCAACCATCAC", "evidence": [ { "id": "rs3389435382", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435382" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Arg432", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, 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"url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Pro313", "weight": 0.0, "mutagenesis": [ { "sequence_org": "P", "sequence_mut": "G", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "314", "end_pos": "314", "site_lbl": "Leu314", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "75% decrease of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Loss of HA activity.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Asp344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Loss of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Gln380", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "N", "comment": "85%-90% decrease of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Arg383", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "85%-90% decrease of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] }, { "uniprot_canonical_ac": "Q61647-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Trp384", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "Y", "comment": "Loss of both activities.", "evidence": [ { "database": "UniProtKB", "id": "Q61647", "url": "https://www.uniprot.org/uniprotkb/Q61647" }, { "database": "PubMed", "id": "10617644", "url": "https://glygen.org/publication/PubMed/10617644" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q61716-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q61716", "url": "https://www.uniprot.org/uniprotkb/Q61716" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 190, "chemical_mass": 21736.0, "gene_names": "Ifna11;IFN-[a]11;If1ai10;Ifna11", "protein_name": "Interferon alpha-11", "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:10459", "name": "common cold", "description": "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus.", "url": "https://disease-ontology.org/term/DOID:10459", "evidence": [ { "id": "10459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10459" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:12287", "name": "Crimean-Congo hemorrhagic fever", "description": "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo haemorrhagic fever virus (Orthonairovirus haemorrhagiae), which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine.", "url": "https://disease-ontology.org/term/DOID:12287", "evidence": [ { "id": "12287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12287" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. 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"https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q07113", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07113" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2476", "end_pos": "2476", "site_lbl": "Ser2476", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q07113", "url": "https://www.uniprot.org/uniprotkb/Q07113" }, { "database": "PubMed", "id": "18630941", "url": "https://glygen.org/publication/PubMed/18630941" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "PubMed", "id": "17242355", "url": "https://glygen.org/publication/PubMed/17242355" }, { "database": "PubMed", "id": "19131326", "url": "https://glygen.org/publication/PubMed/19131326" }, { "database": "iPTMnet", "id": "Q07113", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q07113" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Thr397", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NQT->NQI); glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945083", "evidence": [ { "id": "rs3389401662", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401662" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Lys712", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NEK->NET); glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934833", "evidence": [ { "id": "rs3407484561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407484561" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Ser866", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NGS->NGY); glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12932924", "evidence": [ { "id": "rs3389432391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432391" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1086", "end_pos": "1086", "site_lbl": "Glu1086", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923913", "evidence": [ { "id": "rs3389442799", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442799" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1133", "end_pos": "1133", "site_lbl": "Gly1133", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923683", "evidence": [ { "id": "rs3389382838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382838" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1170", "end_pos": "1170", "site_lbl": "Cys1170", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923572", "evidence": [ { "id": "rs3389432383", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432383" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1173", "end_pos": "1173", "site_lbl": "Gln1173", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923564", "evidence": [ { "id": "rs3389432411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432411" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1177", "end_pos": "1177", "site_lbl": "Thr1177", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923551", "evidence": [ { "id": "rs3389393315", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393315" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1192", "end_pos": "1192", "site_lbl": "Phe1192", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12923234", "evidence": [ { "id": "rs3389382876", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382876" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1227", "end_pos": "1227", "site_lbl": "His1227", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12922433", "evidence": [ { "id": "rs3389425373", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425373" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1281", "end_pos": "1281", "site_lbl": "Pro1281", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12922271", "evidence": [ { "id": "rs3389393296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393296" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1286", "end_pos": "1286", "site_lbl": "Lys1286", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12922255", "evidence": [ { "id": "rs3389401689", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401689" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Cys129", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12959182", "evidence": [ { "id": "rs3389432851", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q07113-1", "start_pos": "1367", "end_pos": "1367", "site_lbl": "Ala1367", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12920238", "evidence": [ { "id": "rs221423319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221423319" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1382", "end_pos": "1382", "site_lbl": "Asp1382", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12920199_12920200insCAAGGTACAGTGACAACTGGGAGGCTGTGACCAGGACAGGGGCCAC", "evidence": [ { "id": "rs3406810189", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406810189" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "140", "end_pos": "140", "site_lbl": "Thr140", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12958254", "evidence": [ { "id": "rs3389425667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425667" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1415", "end_pos": "1415", "site_lbl": "Pro1415", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12919408", "evidence": [ { "id": "rs3389432362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432362" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1419", "end_pos": "1419", "site_lbl": "Val1419", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12919396", "evidence": [ { "id": "rs228110931", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228110931" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1495", "end_pos": "1495", "site_lbl": "Thr1495", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12918132", "evidence": [ { "id": "rs3389449176", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449176" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1519", "end_pos": "1519", "site_lbl": "Leu1519", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12917526", "evidence": [ { "id": "rs3389424472", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424472" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1552", "end_pos": "1552", "site_lbl": "Cys1552", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12917426", "evidence": [ { "id": "rs3389436023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436023" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1573", "end_pos": "1573", "site_lbl": "Arg1573", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12917182", "evidence": [ { "id": 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"weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12913012", "evidence": [ { "id": "rs33606153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33606153" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1793", "end_pos": "1793", "site_lbl": "Lys1793", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "SDG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12912969_12912970insCCACACTACCTCAACCAT", "evidence": [ { "id": "rs3389436069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436069" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1794", "end_pos": "1794", "site_lbl": "Thr1794", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12912967", "evidence": [ { "id": "rs3389436035", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436035" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1839", "end_pos": "1839", "site_lbl": "Gly1839", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12912110", "evidence": [ { "id": "rs49586086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49586086" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1886", "end_pos": "1886", "site_lbl": "Cys1886", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12911968", "evidence": [ { "id": "rs3389436051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436051" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1958", "end_pos": "1958", "site_lbl": "Arg1958", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910945", "evidence": [ { "id": "rs3389432871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432871" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1984", "end_pos": "1984", "site_lbl": "Lys1984", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910865", "evidence": [ { "id": "rs3407570663", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407570663" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "1986", "end_pos": "1986", "site_lbl": "Glu1986", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910861", "evidence": [ { "id": "rs3389436055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436055" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2005", "end_pos": "2005", "site_lbl": "Thr2005", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910803", "evidence": [ { "id": "rs3389424467", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424467" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2014", "end_pos": "2014", "site_lbl": "Gly2014", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910776", "evidence": [ { "id": "rs3389432852", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432852" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Ile2019", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910172", "evidence": [ { "id": "rs3389432825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432825" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2027", "end_pos": "2027", "site_lbl": "Lys2027", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12910149", "evidence": [ { "id": "rs3389432392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432392" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2075", "end_pos": "2075", "site_lbl": "Cys2075", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12909095", "evidence": [ { "id": "rs3413002785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413002785" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2091", "end_pos": "2091", "site_lbl": "Lys2091", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12909046", "evidence": [ { "id": "rs3389431323", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431323" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2103", "end_pos": "2103", "site_lbl": "Ser2103", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12908016", "evidence": [ { "id": "rs3552912719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552912719" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2127", "end_pos": "2127", "site_lbl": "Met2127", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907943", "evidence": [ { "id": "rs3389442740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442740" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2128", "end_pos": "2128", "site_lbl": "Val2128", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907941", "evidence": [ { "id": "rs3389432360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432360" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2153", "end_pos": "2153", "site_lbl": "Ala2153", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907379", "evidence": [ { "id": "rs3389425349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425349" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2201", "end_pos": "2201", "site_lbl": "Gly2201", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12907235", "evidence": [ { "id": "rs3389382814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382814" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2226", "end_pos": "2226", "site_lbl": "Gly2226", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905653", "evidence": [ { "id": "rs3389436009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389436009" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2232", "end_pos": "2232", "site_lbl": "Ser2232", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905635", "evidence": [ { "id": "rs13475273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13475273" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2249", "end_pos": "2249", "site_lbl": "Ile2249", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905585", "evidence": [ { "id": "rs3389347904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347904" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2251", "end_pos": "2251", "site_lbl": "Glu2251", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12905577", "evidence": [ { "id": "rs3389393301", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393301" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2275", "end_pos": "2275", "site_lbl": "Val2275", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904619", "evidence": [ { "id": "rs3389438622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438622" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904620", "evidence": [ { "id": "rs3389424449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424449" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2285", "end_pos": "2285", "site_lbl": "Glu2285", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904588", "evidence": [ { "id": "rs3389442733", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442733" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2291", "end_pos": "2291", "site_lbl": "Glu2291", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904572", "evidence": [ { "id": "rs3389431266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431266" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2294", "end_pos": "2294", "site_lbl": "Gln2294", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904562", "evidence": [ { "id": "rs3389382854", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382854" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Leu22", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12988356", "evidence": [ { "id": "rs3407402738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407402738" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2302", "end_pos": "2302", "site_lbl": "Leu2302", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904539", "evidence": [ { "id": "rs3389425641", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425641" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2305", "end_pos": "2305", "site_lbl": "Val2305", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904530", "evidence": [ { "id": "rs3389432807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432807" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2312", "end_pos": "2312", "site_lbl": "Leu2312", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904509", "evidence": [ { "id": "rs3389401691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401691" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2332", "end_pos": "2332", "site_lbl": "Cys2332", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904065", "evidence": [ { "id": "rs3407570654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407570654" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2333", "end_pos": "2333", "site_lbl": "Cys2333", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904062", "evidence": [ { "id": "rs3407356813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407356813" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2334", "end_pos": "2334", "site_lbl": "Arg2334", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904060", "evidence": [ { "id": "rs3407748001", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407748001" } ] }, { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904058", "evidence": [ { "id": "rs3407570665", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407570665" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2335", "end_pos": "2335", "site_lbl": "Arg2335", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12904055", "evidence": [ { "id": "rs3407457939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407457939" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2348", "end_pos": "2348", "site_lbl": "Lys2348", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12903007", "evidence": [ { "id": "rs3389413500", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413500" } ] }, { "sequence_org": "K", "sequence_mut": "NG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12903005_12903006insACACTACCTCAA", "evidence": [ { "id": "rs3389424425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389424425" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2366", "end_pos": "2366", "site_lbl": "Val2366", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902952", "evidence": [ { "id": "rs224549791", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224549791" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2383", "end_pos": "2383", "site_lbl": "Thr2383", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902901", "evidence": [ { "id": "rs3389413581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413581" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2410", "end_pos": "2410", "site_lbl": "Glu2410", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902821", "evidence": [ { "id": "rs3389431316", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431316" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2418", "end_pos": "2418", "site_lbl": "Gly2418", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902797", "evidence": [ { "id": "rs3389432896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432896" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2430", "end_pos": "2430", "site_lbl": "Pro2430", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902761", "evidence": [ { "id": "rs3389401725", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389401725" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2434", "end_pos": "2434", "site_lbl": "Val2434", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902748", "evidence": [ { "id": "rs257673939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257673939" } ] }, { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902749", "evidence": [ { "id": "rs223434790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223434790" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2438", "end_pos": "2438", "site_lbl": "Arg2438", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902737", "evidence": [ { "id": "rs3389442753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442753" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "2470", "end_pos": "2470", "site_lbl": "Val2470", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12902641", "evidence": [ { "id": "rs3389449114", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449114" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Lys261", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950380_12950381insCAACCAT", "evidence": [ { "id": "rs3389438680", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438680" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Asn271", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950351", "evidence": [ { "id": "rs3407484570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407484570" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "275", "end_pos": "275", "site_lbl": "Pro275", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950339", "evidence": [ { "id": "rs3389382805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389382805" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Pro284", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12950311", "evidence": [ { "id": "rs3389432856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432856" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Gly351", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945222", "evidence": [ { "id": "rs3406502421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406502421" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "368", "end_pos": "368", "site_lbl": "Leu368", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945171", "evidence": [ { "id": "rs3389432351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432351" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Gln378", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945141", "evidence": [ { "id": "rs3389431320", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431320" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Thr385", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12945120", "evidence": [ { "id": "rs3389425666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425666" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Phe427", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12944223", "evidence": [ { "id": "rs3389431305", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431305" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Tyr459", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12941103", "evidence": [ { "id": "rs3389347851", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347851" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Leu468", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12941078", "evidence": [ { "id": "rs3389347873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347873" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "474", "end_pos": "474", "site_lbl": "Asn474", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12941060", "evidence": [ { "id": "rs108744529", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs108744529" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "492", "end_pos": "492", "site_lbl": "Gln492", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938829", "evidence": [ { "id": "rs258006004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258006004" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "507", "end_pos": "507", "site_lbl": "Tyr507", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938783", "evidence": [ { "id": "rs227113420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227113420" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ala522", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938739", "evidence": [ { "id": "rs3389413512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389413512" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Glu527", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938724", "evidence": [ { "id": "rs3389435992", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389435992" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Ala533", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12938705", "evidence": [ { "id": "rs3389425339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425339" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "555", "end_pos": "555", "site_lbl": "His555", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12937622", "evidence": [ { "id": "rs3389431264", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431264" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Asp565", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12937593", "evidence": [ { "id": "rs3389442766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442766" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Phe600", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12936247", "evidence": [ { "id": "rs3405631437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3405631437" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Asn62", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12967620", "evidence": [ { "id": "rs3389425624", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425624" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Lys680", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934930", "evidence": [ { "id": "rs3389393254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393254" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "681", "end_pos": "681", "site_lbl": "Ser681", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934926", "evidence": [ { "id": "rs3389432855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389432855" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Leu6", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12988404", "evidence": [ { "id": "rs3553230121", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3553230121" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Asn709", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934843", "evidence": [ { "id": "rs3389442728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389442728" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Ala717", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934819", "evidence": [ { "id": "rs3406810172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406810172" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Val730", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934780", "evidence": [ { "id": "rs3389347839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389347839" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Pro757", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934319", "evidence": [ { "id": "rs864275034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864275034" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Met768", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12934287", "evidence": [ { "id": "rs3389393283", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389393283" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Arg800", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933854", "evidence": [ { "id": "rs3389449187", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449187" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "804", "end_pos": "804", "site_lbl": "Leu804", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933843", "evidence": [ { "id": "rs3389431324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431324" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Met80", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12967565", "evidence": [ { "id": "rs3389425341", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425341" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "812", "end_pos": "812", "site_lbl": "Pro812", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933818", "evidence": [ { "id": "rs3389449153", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389449153" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Ala820", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933795", "evidence": [ { "id": "rs3407075844", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3407075844" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "827", "end_pos": "827", "site_lbl": "Tyr827", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933773", "evidence": [ { "id": "rs3389425671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389425671" } ] }, { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933774", "evidence": [ { "id": "rs3389438604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389438604" } ] } ] }, { "uniprot_canonical_ac": "Q07113-1", "start_pos": "834", "end_pos": "834", "site_lbl": "Leu834", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "17", "chr_pos": "12933020", "evidence": [ { "id": "rs3389431296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389431296" } ] } ] }, { 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"evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "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": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "protein targeting to membrane", "id": "GO:0006612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006612", "evidence": [ { "database": "UniProtKB", "id": "Q8BGT6", "url": "https://www.uniprot.org/uniprotkb/Q8BGT6" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": 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[ { "id": "7442", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7442" } ], "weight": 0.0 }, { "disease_id": "DOID:7725", "name": "epilepsy with generalized tonic-clonic seizures", "description": "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type.", "url": "https://disease-ontology.org/term/DOID:7725", "evidence": [ { "id": "7725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7725" } ], "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:9281", "name": "phenylketonuria", "description": "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.", "url": "https://disease-ontology.org/term/DOID:9281", "evidence": [ { "id": "9281", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9281" } ], "weight": 0.0 } ], "biological_process": [ { "name": "intermediate filament bundle assembly", "id": "GO:0045110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045110", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "peripheral nervous system neuron axonogenesis", "id": "GO:0048936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048936", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "microtubule cytoskeleton organization", "id": "GO:0000226", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000226", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "neurofilament cytoskeleton organization", "id": "GO:0060052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060052", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "axon development", "id": "GO:0061564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061564", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "intermediate filament cytoskeleton organization", "id": "GO:0045104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045104", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "neurofilament bundle assembly", "id": "GO:0033693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033693", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "response to sodium arsenite", "id": "GO:1903935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903935", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "ovarian follicle atresia", "id": "GO:0001552", "url": 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"name": "toxic substance binding", "id": "GO:0015643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015643", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P19246", "url": "https://www.uniprot.org/uniprotkb/P19246" } ], "pmid": "" }, { "name": "structural 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"" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], 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"https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "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": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "heart morphogenesis", "id": "GO:0003007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003007", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "embryonic cranial skeleton morphogenesis", "id": "GO:0048701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048701", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "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": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "middle ear morphogenesis", "id": "GO:0042474", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042474", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "aorta morphogenesis", "id": "GO:0035909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035909", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "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": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "muscle organ morphogenesis", "id": "GO:0048644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048644", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "negative regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046426", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "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": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "soft palate development", "id": "GO:0060023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060023", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "vagus nerve morphogenesis", "id": "GO:0021644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021644", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of cell cycle G1/S phase transition", "id": "GO:1902808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902808", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "lymph vessel development", "id": "GO:0001945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001945", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "embryonic viscerocranium morphogenesis", "id": "GO:0048703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048703", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "tongue morphogenesis", "id": "GO:0043587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043587", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "positive regulation of tongue muscle cell differentiation", "id": "GO:2001037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001037", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "ear morphogenesis", "id": "GO:0042471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042471", "evidence": [ { "database": "UniProtKB", "id": "P70323", "url": "https://www.uniprot.org/uniprotkb/P70323" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": 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tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:14400", "name": "capillary leak syndrome", "description": "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:14400", "evidence": [ { "id": "14400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14400" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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: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:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID: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": [ 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"https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "molecular_function": [ { "name": "aryldialkylphosphatase activity", "id": "GO:0004063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004063", "evidence": [ { "database": "UniProtKB", "id": "P52430", "url": "https://www.uniprot.org/uniprotkb/P52430" } ], "pmid": "" }, { "name": "acyl-L-homoserine-lactone lactonohydrolase activity", "id": "GO:0102007", 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"cholesterol biosynthetic process via desmosterol", "id": "GO:0033489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033489", "evidence": [ { "database": "UniProtKB", "id": "Q9CRA4", "url": "https://www.uniprot.org/uniprotkb/Q9CRA4" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process via lathosterol", "id": "GO:0033490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033490", "evidence": [ { "database": "UniProtKB", "id": "Q9CRA4", "url": "https://www.uniprot.org/uniprotkb/Q9CRA4" } ], "pmid": "" }, { "name": "zymosterol biosynthetic process", "id": "GO:0036197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036197", "evidence": [ { "database": "UniProtKB", "id": "Q9CRA4", "url": "https://www.uniprot.org/uniprotkb/Q9CRA4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9WU20-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 654, "chemical_mass": 74580.0, "gene_names": "Mthfr;Mthfr", "protein_name": "Methylenetetrahydrofolate reductase (NADPH)", "disease": [ { "disease_id": "DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract.", "url": "https://disease-ontology.org/term/DOID:0050589", "evidence": [ { "id": "0050589", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ], "weight": 0.0 }, { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0050830", "name": "peripheral artery disease", "description": "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs.", "url": "https://disease-ontology.org/term/DOID:0050830", "evidence": [ { "id": "0050830", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050830" } ], "weight": 0.0 }, { "disease_id": "DOID:0050864", "name": "non-arteritic anterior ischemic optic neuropathy", "description": "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease.", "url": "https://disease-ontology.org/term/DOID:0050864", "evidence": [ { "id": "0050864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050864" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0051054", "name": "coarctation of the aorta", "description": "A congenital heart disease that is characterized by the luminal narrowing of the thoracic aortic arch, typically located just beyond the left subclavian artery. This narrowing creates an obstruction that can lead to significant cardiovascular complications, including systemic hypertension, left ventricular hypertrophy, and eventually heart failure.", "url": "https://disease-ontology.org/term/DOID:0051054", "evidence": [ { "id": "0051054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051054" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060770", "name": "dextro-looped transposition of the great arteries", "description": "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle.", "url": "https://disease-ontology.org/term/DOID:0060770", "evidence": [ { "id": "0060770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060770" } ], "weight": 0.0 }, { "disease_id": "DOID:0070004", "name": "myeloid neoplasm", "description": "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages.", "url": "https://disease-ontology.org/term/DOID:0070004", "evidence": [ { "id": "0070004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070004" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0080074", "name": "neural tube defect", "description": "A physical disorder characterized by incomplete closure of the neural tube.", "url": "https://disease-ontology.org/term/DOID:0080074", "evidence": [ { "id": "0080074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080074" } ], "weight": 0.0 }, { "disease_id": "DOID:0080177", "name": "hepatic veno-occlusive disease", "description": "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver.", "url": "https://disease-ontology.org/term/DOID:0080177", "evidence": [ { "id": "0080177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080177" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "weight": 0.0 }, { "disease_id": "DOID:10024", "name": "migraine with aura", "description": "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.", "url": "https://disease-ontology.org/term/DOID:10024", "evidence": [ { "id": "10024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10024" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11512", "name": "Budd-Chiari syndrome", "description": "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion.", "url": "https://disease-ontology.org/term/DOID:11512", "evidence": [ { "id": "11512", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11512" } ], "weight": 0.0 }, { "disease_id": "DOID:11664", "name": "nephrosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:11664", "evidence": [ { "id": "11664", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11664" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12336", "name": "male infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:12336", "evidence": [ { "id": "12336", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12336" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:1984", "name": "rectal benign neoplasm", "description": "An intestinal benign neoplasm located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:1984", "evidence": [ { "id": "1984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1984" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3146", "name": "lipid metabolism disorder", "description": "An inherited metabolic disorder that involves the creation and degradation of lipids.", "url": "https://disease-ontology.org/term/DOID:3146", "evidence": [ { "id": "3146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3146" } ], "weight": 0.0 }, { "disease_id": "DOID:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "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:61", "name": "mitral valve disease", "description": "", "url": "https://disease-ontology.org/term/DOID:61", "evidence": [ { "id": "61", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:61" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8736", "name": "smallpox", "description": "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus (Orthopoxvirus variola), which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk.", "url": "https://disease-ontology.org/term/DOID:8736", "evidence": [ { "id": "8736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8736" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9296", "name": "cleft lip", "description": "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.", "url": "https://disease-ontology.org/term/DOID:9296", "evidence": [ { "id": "9296", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9296" } ], "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:9406", "name": "hypopituitarism", "description": "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland.", "url": "https://disease-ontology.org/term/DOID:9406", "evidence": [ { "id": "9406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9406" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9663", "name": "aphthous stomatitis", "description": "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers.", "url": "https://disease-ontology.org/term/DOID:9663", "evidence": [ { "id": "9663", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9663" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" } ], "molecular_function": [ { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate reductase [NAD(P)H] activity", "id": "GO:0004489", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004489", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "modified amino acid binding", "id": "GO:0072341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072341", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "methylenetetrahydrofolate reductase (NADPH) activity", "id": "GO:0106313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106313", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" } ], "biological_process": [ { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "tetrahydrofolate interconversion", "id": "GO:0035999", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035999", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "tetrahydrofolate metabolic process", "id": "GO:0046653", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046653", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "methionine metabolic process", "id": "GO:0006555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006555", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "methionine biosynthetic process", "id": "GO:0009086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009086", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "homocysteine metabolic process", "id": "GO:0050667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050667", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "heterochromatin organization", "id": "GO:0070828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070828", "evidence": [ { "database": "UniProtKB", "id": "Q9WU20", "url": "https://www.uniprot.org/uniprotkb/Q9WU20" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", 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"urate biosynthetic process", "id": "GO:0034418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034418", "evidence": [ { "database": "UniProtKB", "id": "P23492", "url": "https://www.uniprot.org/uniprotkb/P23492" } ], "pmid": "" }, { "name": "purine nucleoside metabolic process", "id": "GO:0042278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042278", "evidence": [ { "database": "UniProtKB", "id": "P23492", "url": "https://www.uniprot.org/uniprotkb/P23492" } ], "pmid": "" }, { "name": "GTP biosynthetic process", "id": "GO:0006183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006183", "evidence": [ { "database": "UniProtKB", "id": "P23492", "url": "https://www.uniprot.org/uniprotkb/P23492" } ], "pmid": "" }, { "name": "nucleotide biosynthetic process", "id": "GO:0009165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009165", "evidence": [ { "database": "UniProtKB", "id": "P23492", "url": "https://www.uniprot.org/uniprotkb/P23492" } ], "pmid": "" }, { "name": "deoxyinosine 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], "pmid": "" }, { "name": "respiratory electron transport chain", "id": "GO:0022904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022904", "evidence": [ { "database": "UniProtKB", "id": "Q9CQZ5", "url": "https://www.uniprot.org/uniprotkb/Q9CQZ5" } ], "pmid": "" }, { "name": "aerobic respiration", "id": "GO:0009060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009060", "evidence": [ { "database": "UniProtKB", "id": "Q9CQZ5", "url": "https://www.uniprot.org/uniprotkb/Q9CQZ5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P61965-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 334, "chemical_mass": 36588.0, "gene_names": "Wdr5;2410008O07Rik;Big-3;Big3;Big;Wdr5", 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"name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "peptidyl-lysine methylation", "id": "GO:0018022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018022", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of embryonic development", "id": "GO:0045995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045995", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone methyltransferase complex", "id": "GO:0035097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035097", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "MLL3/4 complex", "id": "GO:0044666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044666", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "Set1C/COMPASS complex", "id": "GO:0048188", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048188", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "MLL1 complex", "id": "GO:0071339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071339", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone acetyltransferase complex", "id": "GO:0000123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000123", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "NSL complex", "id": "GO:0044545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044545", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "MLL1/2 complex", "id": "GO:0044665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044665", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "ATAC complex", "id": "GO:0140672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140672", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone binding", "id": "GO:0042393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042393", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone H3K4 methyltransferase activity", "id": "GO:0042800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042800", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone H3Q5ser reader activity", "id": "GO:0140004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140004", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" }, { "name": "histone H3K4me1 reader activity", "id": "GO:0140109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140109", "evidence": [ { "database": "UniProtKB", "id": "P61965", "url": "https://www.uniprot.org/uniprotkb/P61965" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P61965-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Thr18", "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": 18, "start_aa": "Thr", "end_pos": 18, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr18", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9WTY1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 482, "chemical_mass": 54357.0, "gene_names": "Pdcd7", "protein_name": "Programmed cell death protein 7", "disease": [], "cellular_component": [ { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U11/U12 snRNP", "id": "GO:0034693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034693", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U12-type spliceosomal complex", "id": "GO:0005689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005689", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U2AF complex", "id": "GO:0089701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0089701", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "U12-type precatalytic spliceosome", "id": "GO:0071016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071016", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" } ], "biological_process": [ { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" }, { "name": "positive regulation of T cell apoptotic process", "id": "GO:0070234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070234", "evidence": [ { "database": "UniProtKB", "id": "Q9WTY1", "url": "https://www.uniprot.org/uniprotkb/Q9WTY1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P63015-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63015", "url": "https://www.uniprot.org/uniprotkb/P63015" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 422, "chemical_mass": 46683.0, "gene_names": "Pax6;1500038E17Rik;AEY11;Dey;Gsfaey11;Pax-6;Pax6;Sey", "protein_name": "Paired box protein Pax-6", "disease": [ { "disease_id": "DOID:0060673", "name": "Peters anomaly", "description": "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.", "url": "https://disease-ontology.org/term/DOID:0060673", "evidence": [ { "id": "0060673", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060673" } ], "weight": 0.0 }, { "disease_id": "DOID:0070530", "name": "foveal hypoplasia 1", "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0070530", "evidence": [ { "id": "0070530", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070530" } ], "weight": 0.0 }, { "disease_id": "DOID:0070532", "name": "aniridia 1", "description": "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.", "url": "https://disease-ontology.org/term/DOID:0070532", "evidence": [ { "id": "0070532", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070532" } ], "weight": 0.0 }, { "disease_id": "DOID:0080610", "name": "anterior segment dysgenesis 5", "description": "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0080610", "evidence": [ { "id": "0080610", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080610" } ], "weight": 0.0 }, { "disease_id": "DOID:0110233", "name": "cataract 27", "description": "A cataract that has_material_basis_in mutation in the region 2p12.", "url": "https://disease-ontology.org/term/DOID:0110233", "evidence": [ { "id": "0110233", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110233" } ], "weight": 0.0 }, { "disease_id": "DOID:0111383", "name": "autosomal dominant keratitis", "description": "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0111383", "evidence": [ { "id": "0111383", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111383" } ], "weight": 0.0 }, { "disease_id": "DOID:0111531", "name": "bilateral optic nerve hypoplasia", "description": "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13.", "url": "https://disease-ontology.org/term/DOID:0111531", "evidence": [ { "id": "0111531", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111531" } ], "weight": 0.0 }, { "disease_id": "DOID:10603", "name": "glucose intolerance", "description": "", "url": "https://disease-ontology.org/term/DOID:10603", "evidence": [ { "id": "10603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10603" } ], "weight": 0.0 }, { "disease_id": "DOID:10629", "name": "microphthalmia", "description": "An eye disease where one or both eyeballs are abnormally small.", "url": "https://disease-ontology.org/term/DOID:10629", "evidence": [ { "id": "10629", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10629" } ], "weight": 0.0 }, { "disease_id": "DOID:1068", "name": "juvenile glaucoma", "description": "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures.", "url": "https://disease-ontology.org/term/DOID:1068", "evidence": [ { "id": "1068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1068" } ], "weight": 0.0 }, { "disease_id": "DOID:11975", "name": "coloboma of optic nerve", "description": "", "url": "https://disease-ontology.org/term/DOID:11975", "evidence": [ { "id": "11975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11975" } ], "weight": 0.0 }, { "disease_id": "DOID:12271", "name": "aniridia", "description": "An iris disease that is characterized by a complete or partial absence of the colored part of the eye.", "url": "https://disease-ontology.org/term/DOID:12271", "evidence": [ { "id": "12271", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12271" } ], "weight": 0.0 }, { "disease_id": "DOID:1229", "name": "paranoid schizophrenia", "description": "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening.", "url": "https://disease-ontology.org/term/DOID:1229", "evidence": [ { "id": "1229", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1229" } ], "weight": 0.0 }, { "disease_id": "DOID:12849", "name": "autistic disorder", "description": "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.", "url": "https://disease-ontology.org/term/DOID:12849", "evidence": [ { "id": "12849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12849" } ], "weight": 0.0 }, { "disease_id": "DOID:14515", "name": "WAGR syndrome", "description": "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.", "url": "https://disease-ontology.org/term/DOID:14515", "evidence": [ { "id": "14515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14515" } ], "weight": 0.0 }, { "disease_id": "DOID:14692", "name": "Smith-Lemli-Opitz syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:14692", "evidence": [ { "id": "14692", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14692" } ], "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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256845923" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Met251", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6669229", "evidence": [ { "id": "rs3389268464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268464" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Arg261", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6664825", "evidence": [ { "id": "rs51489412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51489412" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Thr283", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6664760", "evidence": [ { "id": "rs3389267389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267389" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "292", "end_pos": "292", "site_lbl": "Val292", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655758", "evidence": [ { "id": "rs47276771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47276771" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Lys293", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "SDG*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655754_6655755insCCACACTACCTCAACCAT", "evidence": [ { "id": "rs3389234936", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389234936" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Asn294", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655752", "evidence": [ { "id": "rs3389268406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268406" } ] }, { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655751", "evidence": [ { "id": "rs3389265658", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389265658" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Val329", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6655093", "evidence": [ { "id": "rs3389199163", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199163" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "389", "end_pos": "389", "site_lbl": "Asn389", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6653171", "evidence": [ { "id": "rs3389241881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389241881" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Lys407", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6653117", "evidence": [ { "id": "rs3389268480", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268480" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Arg429", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6652831", "evidence": [ { "id": "rs3389276453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276453" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "442", "end_pos": "442", "site_lbl": "Met442", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6652791", "evidence": [ { "id": "rs3389268485", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268485" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "455", "end_pos": "455", "site_lbl": "Gly455", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6652753", "evidence": [ { "id": "rs3403961727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403961727" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Lys458", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6650697", "evidence": [ { "id": "rs3389269097", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269097" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "463", "end_pos": "463", "site_lbl": "Ala463", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6650684", "evidence": [ { "id": "rs3389227226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227226" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "483", "end_pos": "483", "site_lbl": "Pro483", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6648854", "evidence": [ { "id": "rs3389268481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268481" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Leu487", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6648842", "evidence": [ { "id": "rs3389261004", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389261004" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ile50", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6685996", "evidence": [ { "id": "rs13468690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468690" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ala520", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6648017", "evidence": [ { "id": "rs3389253375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389253375" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Gln567", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638669", "evidence": [ { "id": "rs3389277581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389277581" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "574", "end_pos": "574", "site_lbl": "Arg574", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638650", "evidence": [ { "id": "rs3389269115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389269115" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "594", "end_pos": "594", "site_lbl": "Ala594", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638589", "evidence": [ { "id": "rs248672729", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248672729" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Leu614", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6638528", "evidence": [ { "id": "rs3389282216", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282216" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Glu623", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6637128", "evidence": [ { "id": "rs3389267430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267430" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Met625", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6637121", "evidence": [ { "id": "rs3389268946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268946" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Gln64", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6675243", "evidence": [ { "id": "rs3389268428", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389268428" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Lys691", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6634684", "evidence": [ { "id": "rs3389265690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389265690" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Glu694", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6634674", "evidence": [ { "id": "rs46239517", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46239517" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Trp695", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6634672", "evidence": [ { "id": "rs3389266981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389266981" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Gly707", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6634637", "evidence": [ { "id": "rs3389282175", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389282175" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Lys709", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6632534", "evidence": [ { "id": "rs3389199226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199226" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "711", "end_pos": "711", "site_lbl": "Val711", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6632530", "evidence": [ { "id": "rs3389267021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389267021" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6635250", "evidence": [ { "id": "rs46885821", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46885821" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Glu747", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6631611", "evidence": [ { "id": "rs258855392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs258855392" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "754", "end_pos": "754", "site_lbl": "Arg754", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6631590", "evidence": [ { "id": "rs3389199154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389199154" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Ser777", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6631522", "evidence": [ { "id": "rs50673719", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50673719" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "782", "end_pos": "782", "site_lbl": "Glu782", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6631506", "evidence": [ { "id": "rs46415728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46415728" } ] } ] }, { "uniprot_canonical_ac": "Q9WUA3-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Trp78", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "13", "chr_pos": "6675201", "evidence": [ { "id": "rs3389265625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389265625" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P19258-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P19258", "url": "https://www.uniprot.org/uniprotkb/P19258" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 176, "chemical_mass": 19686.0, "gene_names": 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"GO:1901858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901858", "evidence": [ { "database": "UniProtKB", "id": "P19258", "url": "https://www.uniprot.org/uniprotkb/P19258" } ], "pmid": "" }, { "name": "glomerular basement membrane development", "id": "GO:0032836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032836", "evidence": [ { "database": "UniProtKB", "id": "P19258", "url": "https://www.uniprot.org/uniprotkb/P19258" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P57724-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P57724", "url": "https://www.uniprot.org/uniprotkb/P57724" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 403, "chemical_mass": 41399.0, "gene_names": "Pcbp4;1200003L19Rik;AlphaCP-4;Pcbp4", "protein_name": "Poly(rC)-binding protein 4", "disease": [], 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}, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Arg182", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "87524561", "evidence": [ { "id": "rs232861426", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232861426" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Leu200", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "87524656", "evidence": [ { "id": "rs3388485856", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485856" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "202", "end_pos": "202", "site_lbl": "His202", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "87524662", "evidence": [ { "id": "rs5524939481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5524939481" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Gly203", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "87524665", "evidence": [ { "id": "rs3388486458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486458" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "209", "end_pos": "209", "site_lbl": "Gly209", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation 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}, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "86", "end_pos": "86", "site_lbl": "Asn86", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "87524316", "evidence": [ { "id": "rs3388485427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485427" } ] } ] }, { "uniprot_canonical_ac": "Q9JMH3-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Gln8", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "1", "chr_pos": "87522632", "evidence": [ { "id": "rs3388486376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486376" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q7TMF3-1", "species": [ { "name": "Mus 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"Q8VI63", "url": "https://www.uniprot.org/uniprotkb/Q8VI63" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VI63-1", "start_pos": "176", "end_pos": "176", "site_lbl": "Asn176", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G62765YT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "QWLCATHNTTGMMSGGRR", "relation": "attached", "comment": "reported site N76 is on non-canonical isoform A0A1B0GT55-1 which maps to canonical isoform site Q8VI63-1:176", "icn3d_view": {}, "start_pos": 176, "start_aa": "Asn", "end_pos": 176, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn176", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } 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epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:255", "name": "hemangioma", "description": "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood.", "url": "https://disease-ontology.org/term/DOID:255", "evidence": [ { "id": "255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:255" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2738", "name": "pseudoxanthoma elasticum", "description": "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system.", "url": "https://disease-ontology.org/term/DOID:2738", "evidence": [ { "id": "2738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2738" } ], "weight": 0.0 }, { "disease_id": "DOID:2876", "name": "laryngeal squamous cell carcinoma", "description": "A laryngeal carcinoma that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:2876", "evidence": [ { "id": "2876", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2876" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. 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"https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], 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"disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } 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located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8553", "name": "pyoderma gangrenosum", "description": "", "url": "https://disease-ontology.org/term/DOID:8553", "evidence": [ { "id": "8553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8553" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 } ], "biological_process": [ { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion", "id": "GO:0007162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007162", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": "https://www.uniprot.org/uniprotkb/P33434" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P33434", "url": 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"107455319", "evidence": [ { "id": "rs13459417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13459417" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "212", "end_pos": "212", "site_lbl": "Ala212", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455325", "evidence": [ { "id": "rs3389071126", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389071126" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "220", "end_pos": "220", "site_lbl": "Val220", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455349", "evidence": [ { "id": "rs3389050750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050750" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Ser22", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454756", "evidence": [ { "id": "rs3389072519", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072519" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "235", "end_pos": "235", "site_lbl": "Cys235", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455394", "evidence": [ { "id": "rs3389080106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389080106" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "236", "end_pos": "236", "site_lbl": "Tyr236", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455397", "evidence": [ { "id": "rs3389075653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389075653" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Asn237", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455401", "evidence": [ { "id": "rs3389016530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016530" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Phe252", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455446", "evidence": [ { "id": "rs259847055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259847055" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Ala269", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455496", "evidence": [ { "id": "rs3389066687", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389066687" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "284", "end_pos": "284", "site_lbl": "Glu284", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455542", "evidence": [ { "id": "rs30520537", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30520537" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Arg293", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455568", "evidence": [ { "id": "rs3389079192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389079192" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Thr29", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454777", "evidence": [ { "id": "rs257357711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257357711" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "319", "end_pos": "319", "site_lbl": "Tyr319", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455648", "evidence": [ { "id": "rs3389045813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045813" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Met321", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107455653", "evidence": [ { "id": "rs243223430", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243223430" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Glu329", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456301", "evidence": [ { "id": "rs3389058734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389058734" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Glu332", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456090", "evidence": [ { "id": "rs3400106225", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400106225" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456108", "evidence": [ { "id": "rs3400106253", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3400106253" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "359", "end_pos": "359", "site_lbl": "Glu359", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456301", "evidence": [ { "id": "rs3389058734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389058734" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "35", "end_pos": "35", "site_lbl": "Arg35", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454794", "evidence": [ { "id": "rs3547512139", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3547512139" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Ala366", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456320", "evidence": [ { "id": "rs3389016542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016542" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Ala383", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456371", "evidence": [ { "id": "rs3389045820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045820" } ] }, { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456371", "evidence": [ { "id": "rs3389045820", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389045820" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Leu384", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456374", "evidence": [ { "id": "rs3389072484", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389072484" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Gly393", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456491", "evidence": [ { "id": "rs3389073740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073740" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Cys397", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456415", "evidence": [ { "id": "rs3389069371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389069371" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Gly423", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456491", "evidence": [ { "id": "rs3389073740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389073740" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Ser427", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456504", "evidence": [ { "id": "rs240358988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240358988" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ala438", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456536", "evidence": [ { "id": "rs3389038343", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389038343" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "445", "end_pos": "445", "site_lbl": "Arg445", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456558", "evidence": [ { "id": "rs259808614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259808614" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Cys446", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456560", "evidence": [ { "id": "rs33273575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33273575" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Arg450", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456572", "evidence": [ { "id": "rs29698623", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs29698623" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "453", "end_pos": "453", "site_lbl": "Arg453", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456583", "evidence": [ { "id": "rs261511268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261511268" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Arg460", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107456602", "evidence": [ { "id": "rs3389050824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389050824" } ] } ] }, { "uniprot_canonical_ac": "Q91ZJ9-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Val54", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "9", "chr_pos": "107454851", "evidence": [ { "id": "rs33272312", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33272312" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9JHJ8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JHJ8", "url": "https://www.uniprot.org/uniprotkb/Q9JHJ8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 322, "chemical_mass": 35960.0, "gene_names": "Icoslg;Icosl;B7-H2;B7RP-1;B7h2;B7h;B7rp1;GI50;GL50-B;GL50;ICOS-L;Icoslg;Icosl;LICOS;Ly115l;mKIAA0653", "protein_name": "ICOS ligand", "disease": [ { "disease_id": "DOID:0061085", "name": "immunodeficiency 119", "description": "A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood and that has_material_basis_in homozygous mutation in the ICOSLG gene on chromosome 21q22. 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"sequence_mut": "A", "comment": "No effect on interaction with PARD6B.", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB2", "url": "https://www.uniprot.org/uniprotkb/Q9JLB2" }, { "database": "PubMed", "id": "15140881", "url": "https://glygen.org/publication/PubMed/15140881" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB2-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Arg33", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on interaction with PARD6B.", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB2", "url": "https://www.uniprot.org/uniprotkb/Q9JLB2" }, { "database": "PubMed", "id": "15140881", "url": "https://glygen.org/publication/PubMed/15140881" } ] } ] }, { "uniprot_canonical_ac": "Q9JLB2-1", "start_pos": "34", "end_pos": "34", "site_lbl": "Glu34", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "No effect on interaction with PARD6B.", "evidence": [ { "database": "UniProtKB", 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effect on interaction with PARD6B.", "evidence": [ { "database": "UniProtKB", "id": "Q9JLB2", "url": "https://www.uniprot.org/uniprotkb/Q9JLB2" }, { "database": "PubMed", "id": "15140881", "url": "https://glygen.org/publication/PubMed/15140881" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q8BGI5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGI5", "url": "https://www.uniprot.org/uniprotkb/Q8BGI5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 305, "chemical_mass": 34016.0, "gene_names": "Pex26;4632428M11Rik;Pex26", "protein_name": "Peroxisome assembly protein 26", "disease": [ { "disease_id": "DOID:0080482", "name": "peroxisome biogenesis disorder 7A", "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.", "url": 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"gene_names": "Serpinf1;EPC-1;Pedfl;Pedf;Sdf3;Serpinf1", "protein_name": "Pigment epithelium-derived factor", "disease": [ { "disease_id": "DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern.", "url": "https://disease-ontology.org/term/DOID:0050831", "evidence": [ { "id": "0050831", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ], "weight": 0.0 }, { "disease_id": "DOID:0070508", "name": "metabolic dysfunction and alcohol associated liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and elevated alcohol consumption. This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the specified cardiometabolic risk factors. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0070508", "evidence": [ { "id": "0070508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070508" } ], "weight": 0.0 }, { "disease_id": "DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis.", "url": "https://disease-ontology.org/term/DOID:0080547", "evidence": [ { "id": "0080547", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ], "weight": 0.0 }, { "disease_id": "DOID:0110350", "name": "osteogenesis imperfecta type 6", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.", "url": "https://disease-ontology.org/term/DOID:0110350", "evidence": [ { "id": "0110350", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110350" } ], "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 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11382", "name": "corneal neovascularization", "description": "", "url": "https://disease-ontology.org/term/DOID:11382", "evidence": [ { "id": "11382", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11382" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:12986", "name": "leukostasis", "description": "", "url": "https://disease-ontology.org/term/DOID:12986", "evidence": [ { "id": "12986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12986" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID: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:13514", "name": "venous tributary occlusion of retina", "description": "", "url": "https://disease-ontology.org/term/DOID:13514", "evidence": [ { "id": "13514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13514" } ], "weight": 0.0 }, { "disease_id": "DOID:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2450", "name": "central retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:2450", "evidence": [ { "id": "2450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2450" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3347", "name": "osteosarcoma", "description": "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus).", "url": "https://disease-ontology.org/term/DOID:3347", "evidence": [ { "id": "3347", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3347" } ], "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:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5052", "name": "melioidosis", "description": "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain.", "url": "https://disease-ontology.org/term/DOID:5052", "evidence": [ { "id": "5052", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5052" } ], "weight": 0.0 }, { "disease_id": "DOID:5425", "name": "ovarian hyperstimulation syndrome", "description": "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology.", "url": "https://disease-ontology.org/term/DOID:5425", "evidence": [ { "id": "5425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5425" } ], "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:768", "name": "retinoblastoma", "description": "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina.", "url": "https://disease-ontology.org/term/DOID:768", "evidence": [ { "id": "768", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:768" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "negative regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060770", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "response to arsenic-containing substance", "id": "GO:0046685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046685", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "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": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "short-term memory", "id": "GO:0007614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007614", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "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": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "response to acidic pH", "id": "GO:0010447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010447", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "cellular response to cobalt ion", "id": "GO:0071279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071279", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "ovulation cycle", "id": "GO:0042698", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042698", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" }, { "name": "response to peptide", "id": "GO:1901652", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901652", "evidence": [ { "database": "UniProtKB", "id": "P97298", "url": "https://www.uniprot.org/uniprotkb/P97298" } ], "pmid": "" } ], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": 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cycle", "id": "GO:0000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000278", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "G2/M transition of mitotic cell cycle", "id": "GO:0000086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000086", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of mitotic cell 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proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of mitotic metaphase/anaphase transition", "id": "GO:0030071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030071", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "nuclear membrane disassembly", "id": "GO:0051081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051081", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "establishment of mitotic spindle orientation", "id": "GO:0000132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000132", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "polar body extrusion after meiotic divisions", "id": "GO:0040038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040038", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "mitotic spindle organization", "id": "GO:0007052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007052", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of cytokinesis", "id": "GO:0032465", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032465", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "protein localization to centrosome", "id": "GO:0071539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071539", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "mitotic sister chromatid segregation", "id": "GO:0000070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000070", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of mitotic spindle assembly", "id": "GO:1901673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901673", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "microtubule bundle formation", "id": "GO:0001578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001578", "evidence": [ { "database": "UniProtKB", "id": "Q07832", 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"id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "synaptonemal complex disassembly", "id": "GO:0070194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070194", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "regulation of protein localization to cell cortex", "id": "GO:1904776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904776", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear envelope disassembly", "id": "GO:1905559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905559", "evidence": [ { "database": "UniProtKB", "id": "Q07832", "url": "https://www.uniprot.org/uniprotkb/Q07832" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": 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"UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 137, "chemical_mass": 14954.0, "gene_names": "Ifitm3;1110004C05Rik;Cd225;Cdw217;DSPA2b;Fgls;IP15;Ifitm3;mil-1", "protein_name": "Interferon-induced transmembrane protein 3", "disease": [ { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of viral transcription", "id": "GO:0032897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032897", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "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": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "negative regulation of viral genome replication", "id": "GO:0045071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045071", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "type I interferon-mediated signaling pathway", "id": "GO:0060337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060337", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to type II interferon", "id": "GO:0034341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034341", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to interferon-alpha", "id": "GO:0035455", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035455", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "response to interferon-beta", "id": "GO:0035456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035456", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "host-mediated suppression of symbiont invasion", "id": "GO:0046597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046597", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "apical part of cell", "id": "GO:0045177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045177", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CQW9-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Tyr20", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "iPTMnet", "id": "Q9CQW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQW9" }, { "database": "PubMed", "id": "24627473", "url": "https://glygen.org/publication/PubMed/24627473" } ] } ], "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Accumulates at the plasma membrane. No effect on anti-SARS-CoV-2 activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "PubMed", "id": "33270927", "url": "https://glygen.org/publication/PubMed/33270927" } ] } ] }, { "uniprot_canonical_ac": "Q9CQW9-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Tyr27", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "PubMed", "id": "19144319", "url": "https://glygen.org/publication/PubMed/19144319" }, { "database": "iPTMnet", "id": "Q9CQW9", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CQW9" } ] } ] }, { "uniprot_canonical_ac": "Q9CQW9-1", "start_pos": "105", "end_pos": "105", "site_lbl": "Cys105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect on SARS-CoV-2 infection; when associated with 71-A-A-72.", "evidence": [ { "database": "UniProtKB", "id": "Q9CQW9", "url": "https://www.uniprot.org/uniprotkb/Q9CQW9" }, { "database": "PubMed", "id": "33270927", "url": "https://glygen.org/publication/PubMed/33270927" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9CR04-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 13492.0, "gene_names": "H2ap;1700054O13Rik;H2al3;H2ap;Hypm", "protein_name": "Huntingtin-interacting protein M", "disease": [], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" }, { "name": "structural constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" }, { "name": "nucleosome", "id": "GO:0000786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000786", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" } ], "biological_process": [ { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "Q9CR04", "url": "https://www.uniprot.org/uniprotkb/Q9CR04" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9CR41-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 121, "chemical_mass": 13651.0, "gene_names": "Hypk;2310003F16Rik;HSPC136;Hypk", "protein_name": "Huntingtin-interacting protein K", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CR41-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Ser30", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CR41", "url": "https://www.uniprot.org/uniprotkb/Q9CR41" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9DBX7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 326, "chemical_mass": 34929.0, "gene_names": "Heyl;Hesr3;Hey3;Heyl;Hrt3;bHLHb33;hesr3", "protein_name": "Hairy/enhancer-of-split related with YRPW motif-like protein", "disease": [], "biological_process": [ { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "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": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "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": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "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": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "glomerulus development", "id": "GO:0032835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032835", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "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": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "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": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "AF-1 domain binding", "id": "GO:0050683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050683", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9DBX7", "url": "https://www.uniprot.org/uniprotkb/Q9DBX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9QUS4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 339, "chemical_mass": 35873.0, "gene_names": "Hey2;CHF1;Chf1;Herp1;Herp;Hesr2;Hey2;Hrt2;bHLHb32;hesr2", "protein_name": "Hairy/enhancer-of-split related with YRPW motif protein 2", "disease": [ { "disease_id": "DOID:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.", "url": "https://disease-ontology.org/term/DOID:264", "evidence": [ { "id": "264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:264" } ], "weight": 0.0 }, { "disease_id": "DOID:62", "name": "aortic valve disease", "description": "A heart valve disease that is located_in the aortic valve.", "url": "https://disease-ontology.org/term/DOID:62", "evidence": [ { "id": "62", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:62" } ], "weight": 0.0 }, { "disease_id": "DOID:6419", "name": "tetralogy of Fallot", "description": "", "url": "https://disease-ontology.org/term/DOID:6419", "evidence": [ { "id": "6419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6419" } ], "weight": 0.0 }, { "disease_id": "DOID:799", "name": "varicose veins", "description": "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.", "url": 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DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy", "id": "GO:0003300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003300", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "dorsal aorta morphogenesis", "id": "GO:0035912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035912", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac muscle hypertrophy in response to stress", "id": "GO:0014898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014898", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell differentiation", "id": "GO:0051151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051151", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "heart trabecula formation", "id": "GO:0060347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell development", "id": "GO:0055015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055015", "evidence": [ { "database": "UniProtKB", "id": "Q9QUS4", "url": "https://www.uniprot.org/uniprotkb/Q9QUS4" 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inflammation, headaches and, rarely, oral or genital lesions.", "url": "https://disease-ontology.org/term/DOID:0080746", "evidence": [ { "id": "0080746", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080746" } ], "weight": 0.0 }, { "disease_id": "DOID:0111563", "name": "Sturge-Weber syndrome", "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2.", "url": "https://disease-ontology.org/term/DOID:0111563", "evidence": [ { "id": "0111563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111563" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10588", "name": "adrenoleukodystrophy", "description": "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death.", "url": "https://disease-ontology.org/term/DOID:10588", "evidence": [ { "id": "10588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10588" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:106", "name": "pleural tuberculosis", "description": "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.", "url": "https://disease-ontology.org/term/DOID:106", "evidence": [ { "id": "106", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:106" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1073", "name": "renal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1073", "evidence": [ { "id": "1073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1073" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age.", "url": "https://disease-ontology.org/term/DOID:1094", "evidence": [ { "id": "1094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:10976", "name": "membranous glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:10976", "evidence": [ { "id": "10976", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10976" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11294", "name": "arteriovenous malformation", "description": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system.", "url": "https://disease-ontology.org/term/DOID:11294", "evidence": [ { "id": "11294", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11294" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:1168", "name": "familial hyperlipidemia", "description": "A lipid metabolism disease that is characterized by elevated levels of lipids in the blood.", "url": "https://disease-ontology.org/term/DOID:1168", "evidence": [ { "id": "1168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID: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:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:12894", "name": "Sjogren's syndrome", "description": "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.", "url": "https://disease-ontology.org/term/DOID:12894", "evidence": [ { "id": "12894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12894" } ], "weight": 0.0 }, { "disease_id": "DOID:1312", "name": "focal segmental glomerulosclerosis", "description": "", "url": "https://disease-ontology.org/term/DOID:1312", "evidence": [ { "id": "1312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1312" } ], "weight": 0.0 }, { "disease_id": "DOID:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13714", "name": "anodontia", "description": "A tooth disease that is characterized by complete absence of permanent teeth.", "url": "https://disease-ontology.org/term/DOID:13714", "evidence": [ { "id": "13714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13714" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:14261", "name": "fragile X syndrome", "description": "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.", "url": "https://disease-ontology.org/term/DOID:14261", "evidence": [ { "id": "14261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14261" } ], "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:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1657", "name": "ventricular septal defect", "description": "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.", "url": "https://disease-ontology.org/term/DOID:1657", "evidence": [ { "id": "1657", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1657" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1825", "name": "childhood absence epilepsy", "description": "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.", "url": "https://disease-ontology.org/term/DOID:1825", "evidence": [ { "id": "1825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1825" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:2234", "name": "focal epilepsy", "description": "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.", "url": "https://disease-ontology.org/term/DOID:2234", "evidence": [ { "id": "2234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2234" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:234", "name": "colon adenocarcinoma", "description": "A colon carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:234", "evidence": [ { "id": "234", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:234" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2378", "name": "relapsing-remitting multiple sclerosis", "description": "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles.", "url": "https://disease-ontology.org/term/DOID:2378", "evidence": [ { "id": "2378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2378" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:289", "name": "endometriosis", "description": "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body.", "url": "https://disease-ontology.org/term/DOID:289", "evidence": [ { "id": "289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:289" } ], "weight": 0.0 }, { "disease_id": "DOID:3042", "name": "allergic contact dermatitis", "description": "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.", "url": "https://disease-ontology.org/term/DOID:3042", "evidence": [ { "id": "3042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3042" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4079", "name": "heart valve disease", "description": "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right).", "url": "https://disease-ontology.org/term/DOID:4079", "evidence": [ { "id": "4079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4079" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:4250", "name": "conjunctivochalasis", "description": "", "url": "https://disease-ontology.org/term/DOID:4250", "evidence": [ { "id": "4250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4250" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4644", "name": "epidermolysis bullosa simplex", "description": "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.", "url": "https://disease-ontology.org/term/DOID:4644", "evidence": [ { "id": "4644", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4644" } ], "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:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:5213", "name": "chronic inflammatory demyelinating polyradiculoneuropathy", "description": "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers.", "url": "https://disease-ontology.org/term/DOID:5213", "evidence": [ { "id": "5213", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5213" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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:646", "name": "viral encephalitis", "description": "An encephalitis that involves inflammation of the brain caused by viral infection.", "url": "https://disease-ontology.org/term/DOID:646", "evidence": [ { "id": "646", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:646" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:799", "name": "varicose veins", "description": "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.", "url": "https://disease-ontology.org/term/DOID:799", "evidence": [ { "id": "799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:799" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8440", "name": "ileus", "description": "", "url": "https://disease-ontology.org/term/DOID:8440", "evidence": [ { "id": "8440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8440" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8549", "name": "chronic ulcer of skin", "description": "", "url": "https://disease-ontology.org/term/DOID:8549", "evidence": [ { "id": "8549", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8549" } ], "weight": 0.0 }, { "disease_id": "DOID:8553", "name": "pyoderma gangrenosum", "description": "", "url": "https://disease-ontology.org/term/DOID:8553", "evidence": [ { "id": "8553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8553" } ], "weight": 0.0 }, { "disease_id": "DOID:869", "name": "cholesteatoma", "description": "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction.", "url": "https://disease-ontology.org/term/DOID:869", "evidence": [ { "id": "869", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:869" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8881", "name": "rosacea", "description": "", "url": "https://disease-ontology.org/term/DOID:8881", "evidence": [ { "id": "8881", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8881" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9470", "name": "bacterial meningitis", "description": "A meningitis that has_material_basis_in a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:9470", "evidence": [ { "id": "9470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9470" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": "https://www.uniprot.org/uniprotkb/P41245" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P41245", "url": 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"url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080933", "name": "immunoglobulin light chain amyloidosis", "description": "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells.", "url": "https://disease-ontology.org/term/DOID:0080933", "evidence": [ { "id": "0080933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080933" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10964", "name": "cholesteatoma of middle ear", "description": "", "url": "https://disease-ontology.org/term/DOID:10964", "evidence": [ { "id": "10964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10964" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:14004", "name": "thoracic aortic aneurysm", "description": "An aortic aneurysm that is located_in the thoracic aorta.", "url": "https://disease-ontology.org/term/DOID:14004", "evidence": [ { "id": "14004", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14004" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1712", "name": "aortic valve stenosis", "description": "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening.", "url": "https://disease-ontology.org/term/DOID:1712", "evidence": [ { "id": "1712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1712" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2320", "name": "obstructive lung disease", "description": "A lung disease that is characterized by narrowing of pulmonary airways.", "url": "https://disease-ontology.org/term/DOID:2320", "evidence": [ { "id": "2320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2320" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:4914", "name": "esophagus adenocarcinoma", "description": "An esophageal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:4914", "evidence": [ { "id": "4914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4914" } ], "weight": 0.0 }, { "disease_id": "DOID:4959", "name": "epidermolysis bullosa dystrophica", "description": "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen.", "url": "https://disease-ontology.org/term/DOID:4959", "evidence": [ { "id": "4959", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4959" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5517", "name": "stomach carcinoma", "description": "A stomach cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:5517", "evidence": [ { "id": "5517", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5517" } ], "weight": 0.0 }, { "disease_id": "DOID: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:7693", "name": "abdominal aortic aneurysm", "description": "An aortic aneurysm that is located_in the abdominal aorta.", "url": "https://disease-ontology.org/term/DOID:7693", "evidence": [ { "id": "7693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7693" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:799", "name": "varicose veins", "description": "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.", "url": "https://disease-ontology.org/term/DOID:799", "evidence": [ { "id": "799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:799" } ], "weight": 0.0 }, { "disease_id": "DOID:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8472", "name": "localized scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:8472", "evidence": [ { "id": "8472", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8472" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that 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"sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70565166", "evidence": [ { "id": "rs3398786745", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398786745" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ala31", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70568019", "evidence": [ { "id": "rs3388983810", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388983810" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "347", "end_pos": "347", "site_lbl": "Gly347", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70564574", "evidence": [ { "id": "rs3388987034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987034" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Ser371", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70563169_70563170insCTGCTTTTTCTATAGCTCATCACCATACAGCACAACATGGAGATTCTGAGATCCCCTCATCTGGAGATGAGGGGGATCTCAGAATCTCCAT", "evidence": [ { "id": "rs3399206763", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399206763" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "400", "end_pos": "400", "site_lbl": "Ala400", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70563059", "evidence": [ { "id": "rs3388957105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957105" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Pro416", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70563010", "evidence": [ { "id": "rs3388969215", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969215" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ala438", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562945", "evidence": [ { "id": "rs221305483", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221305483" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "448", "end_pos": "448", "site_lbl": "Phe448", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562915", "evidence": [ { "id": "rs240080336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240080336" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Met467", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562858", "evidence": [ { "id": "rs214799496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214799496" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "47", "end_pos": "47", "site_lbl": "Arg47", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70567971", "evidence": [ { "id": "rs227901939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227901939" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "484", "end_pos": "484", "site_lbl": "Arg484", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "TL*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562806_70562807insACGATGAGGAGGGGCCGCTTTAAA", "evidence": [ { "id": "rs3398959231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398959231" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Arg485", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562804", "evidence": [ { "id": "rs3399288913", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399288913" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "504", "end_pos": "504", "site_lbl": "Gln504", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562747", "evidence": [ { "id": "rs233285620", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233285620" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "508", "end_pos": "508", "site_lbl": "Val508", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562734", "evidence": [ { "id": "rs260048502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260048502" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Pro516", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562711", "evidence": [ { "id": "rs3507893058", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507893058" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "520", "end_pos": "520", "site_lbl": "Ala520", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562698", "evidence": [ { "id": "rs3388939790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388939790" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Ala522", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562692", "evidence": [ { "id": "rs3388980156", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388980156" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Asn523", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562689", "evidence": [ { "id": "rs226597062", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226597062" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Arg526", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562680", "evidence": [ { "id": "rs51122824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51122824" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "529", "end_pos": "529", "site_lbl": "Ala529", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562672", "evidence": [ { "id": "rs243087458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs243087458" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "534", "end_pos": "534", "site_lbl": "Ser534", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562656", "evidence": [ { "id": "rs220977682", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220977682" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "554", "end_pos": "554", "site_lbl": "Gly554", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70562597", "evidence": [ { "id": "rs3388987752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987752" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "558", "end_pos": "558", "site_lbl": "Leu558", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561294", "evidence": [ { "id": "rs249972023", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249972023" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Gly559", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561290", "evidence": [ { "id": "rs3388983959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388983959" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Glu565", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561272", "evidence": [ { "id": "rs3388969183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388969183" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "56", "end_pos": "56", "site_lbl": "Leu56", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70567945", "evidence": [ { "id": "rs3388957106", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957106" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "580", "end_pos": "580", "site_lbl": "Ser580", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561227", "evidence": [ { "id": "rs247400056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247400056" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "589", "end_pos": "589", "site_lbl": "Pro589", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561201", "evidence": [ { "id": "rs219871265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs219871265" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Ala591", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561194", "evidence": [ { "id": "rs3388963167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388963167" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "605", "end_pos": "605", "site_lbl": "Pro605", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561152", "evidence": [ { "id": "rs241823251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241823251" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "608", "end_pos": "608", "site_lbl": "Pro608", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561143", "evidence": [ { "id": "rs3388973774", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973774" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "644", "end_pos": "644", "site_lbl": "Leu644", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70561036", "evidence": [ { "id": "rs3388973758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388973758" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ser670", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70560957", "evidence": [ { "id": "rs3388983783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388983783" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "680", "end_pos": "680", "site_lbl": "Gln680", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70560926", "evidence": [ { "id": "rs3388987750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388987750" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "688", "end_pos": "688", "site_lbl": "Gly688", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70560903", "evidence": [ { "id": "rs3388957110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388957110" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "694", "end_pos": "694", "site_lbl": "Thr694", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70560885", "evidence": [ { "id": "rs222174441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222174441" } ] } ] }, { "uniprot_canonical_ac": "P55066-1", "start_pos": "736", "end_pos": "736", "site_lbl": "Ala736", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "8", "chr_pos": "70560760", "evidence": [ { "id": "rs233139602", "database": "dbSNP", "url": 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"end_pos": "802", "site_lbl": "Asn802", "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": 802, "start_aa": "Asn", "end_pos": 802, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn802", "evidence": [ { "id": "P52850", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P52850#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "668", "end_pos": "668", "site_lbl": "Ser668", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NAS->NAN); glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20775486", "evidence": [ { "id": "rs3389311971", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389311971" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "113", "end_pos": "113", "site_lbl": "Tyr113", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779900", "evidence": [ { "id": "rs3389303132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389303132" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Thr128", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779857", "evidence": [ { "id": "rs3550745567", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3550745567" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Trp152", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779785", "evidence": [ { "id": "rs236361773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236361773" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "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, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779719", "evidence": [ { "id": "rs3389238308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389238308" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Asn194", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779659", "evidence": [ { "id": "rs3404946254", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404946254" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Trp227", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779560", "evidence": [ { "id": "rs1134217160", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134217160" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Met252", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779483", "evidence": [ { "id": "rs235652666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs235652666" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Leu271", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779427", "evidence": [ { "id": "rs3389311914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389311914" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Val29", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780154", "evidence": [ { "id": "rs3389313194", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313194" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Leu2", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780235", "evidence": [ { "id": "rs3389276860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276860" } ] }, { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780234", "evidence": [ { "id": "rs3389283780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283780" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "330", "end_pos": "330", "site_lbl": "Lys330", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20779251", "evidence": [ { "id": "rs3389311947", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389311947" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Lys378", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778633", "evidence": [ { "id": "rs3389276825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276825" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Glu382", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778621", "evidence": [ { "id": "rs3389311955", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389311955" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "399", "end_pos": "399", "site_lbl": "His399", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778570", "evidence": [ { "id": "rs3389305877", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389305877" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Asp406", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778549", "evidence": [ { "id": "rs3389316741", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389316741" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "411", "end_pos": "411", "site_lbl": "Asn411", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778536", "evidence": [ { "id": "rs864292178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864292178" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Ser41", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780117", "evidence": [ { "id": "rs30572162", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30572162" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Pro42", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780115", "evidence": [ { "id": "rs3389313219", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313219" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "431", "end_pos": "431", "site_lbl": "His431", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778286", "evidence": [ { "id": "rs3389293982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389293982" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Ile473", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20778161", "evidence": [ { "id": "rs3389326535", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389326535" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Val479", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777683", "evidence": [ { "id": "rs3389305870", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389305870" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "49", "end_pos": "49", "site_lbl": "Pro49", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780094", "evidence": [ { "id": "rs3404639358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404639358" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "510", "end_pos": "510", "site_lbl": "Gly510", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777589_20777590insACTACCTCAACCATCAC", "evidence": [ { "id": "rs3389321996", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389321996" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Glu512", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777583", "evidence": [ { "id": "rs3389303178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389303178" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Val517", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777569", "evidence": [ { "id": "rs3389276874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389276874" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Phe525", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777418", "evidence": [ { "id": "rs3389283728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389283728" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Met526", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777416", "evidence": [ { "id": "rs3389294010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389294010" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Asn531", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777399", "evidence": [ { "id": "rs3389307044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389307044" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Tyr540", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777373_20777374i", "evidence": [ { "id": "rs3403408715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3403408715" } ] }, { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20777374", "evidence": [ { "id": "rs3389313009", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389313009" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Asp54", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20780079", "evidence": [ { "id": "rs3404102892", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404102892" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Ser632", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20775714", "evidence": [ { "id": "rs3389305896", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389305896" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ser635", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "14", "chr_pos": "20775706", "evidence": [ { "id": "rs3389316752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389316752" } ] } ] }, { "uniprot_canonical_ac": "P52850-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Ala677", "weight": 0.0, "snv": [ { 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0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87903900", "evidence": [ { "id": "rs3388631226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388631226" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Met227", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87903511", "evidence": [ { "id": "rs3388642012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388642012" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "255", "end_pos": "255", "site_lbl": "Asn255", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline 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"id": "rs3388639606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388639606" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "329", "end_pos": "329", "site_lbl": "Lys329", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87902791", "evidence": [ { "id": "rs3388636270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388636270" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Asn348", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87902734", "evidence": [ { "id": "rs3393100765", "database": "dbSNP", "url": 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] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Ser361", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87901619", "evidence": [ { "id": "rs226872702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226872702" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Leu372", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87901587", "evidence": [ { "id": "rs216030231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs216030231" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "381", "end_pos": "381", 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"id": "rs3388627815", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388627815" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Pro577", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87900503", "evidence": [ { "id": "rs3388639056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388639056" } ] } ] }, { "uniprot_canonical_ac": "Q61361-1", "start_pos": "579", "end_pos": "579", "site_lbl": "Gly579", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/proteoglycan.", "chr_id": "3", "chr_pos": "87900496", "evidence": [ { "id": "rs3388642086", "database": "dbSNP", "url": 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The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. 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"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": 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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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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": "batch.mouse.16" }, { "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": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" } ], "biological_process": [ { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", "url": "https://www.uniprot.org/uniprotkb/Q9WVC6" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9WVC6", 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"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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388947115" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Ala174", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127867154", "evidence": [ { "id": "rs13473256", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13473256" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "178", "end_pos": "178", "site_lbl": "Ala178", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "7", "chr_pos": "127867154", "evidence": [ { "id": "rs13473256", "database": "dbSNP", "url": "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", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33212804" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "624", "end_pos": "624", "site_lbl": "Pro624", "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": "127871217", "evidence": [ { "id": "rs3388953628", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953628" } ] } ] }, { "uniprot_canonical_ac": "Q923I7-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Trp62", "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": "127865580", "evidence": [ { "id": "rs3388946538", "database": "dbSNP", "url": 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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": [ { 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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": 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"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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"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": 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"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": "batch.mouse.16" }, { "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 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"name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "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": "P62878", "url": 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"https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "G1/S transition of mitotic cell cycle", "id": "GO:0000082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000082", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "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": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "transcription elongation by RNA polymerase II", "id": "GO:0006368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006368", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "miRNA-mediated gene silencing by mRNA destabilization", "id": "GO:0035279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035279", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "P62878", "url": "https://www.uniprot.org/uniprotkb/P62878" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": 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} ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "Q61820", "url": "https://www.uniprot.org/uniprotkb/Q61820" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q61820", "url": "https://www.uniprot.org/uniprotkb/Q61820" } ], "pmid": "" }, { "name": "RNA nuclear export complex", "id": "GO:0042565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042565", "evidence": [ { "database": "UniProtKB", "id": "Q61820", "url": "https://www.uniprot.org/uniprotkb/Q61820" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61820-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": 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"https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:11981", "name": "morbid obesity", "description": "", "url": "https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:12785", "name": "diabetic polyneuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12785", "evidence": [ { "id": "12785", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12785" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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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": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "positive regulation of endothelin production", "id": "GO:1904472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904472", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "transport across blood-brain barrier", "id": "GO:0150104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150104", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "advanced glycation end-product binding", "id": "GO:1904599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904599", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q62151", "url": "https://www.uniprot.org/uniprotkb/Q62151" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { 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} ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 357, "chemical_mass": 39991.0, "gene_names": "Rbm4b;4921506I22Rik;Lark2;Neosin;Rbm30;Rbm4b", "protein_name": "RNA-binding protein 4B", "disease": [], "molecular_function": [ { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q8VE92", "url": "https://www.uniprot.org/uniprotkb/Q8VE92" } ], "pmid": "" } ], "cellular_component": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q91V41", "url": "https://www.uniprot.org/uniprotkb/Q91V41" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q91V41", "url": "https://www.uniprot.org/uniprotkb/Q91V41" } ], "pmid": "" }, { "name": "cytoplasmic vesicle membrane", "id": "GO:0030659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030659", "evidence": [ { "database": "UniProtKB", "id": "Q91V41", "url": "https://www.uniprot.org/uniprotkb/Q91V41" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "Q91V41", "url": "https://www.uniprot.org/uniprotkb/Q91V41" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", 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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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"Q00915", "url": "https://www.uniprot.org/uniprotkb/Q00915" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "Q00915", "url": "https://www.uniprot.org/uniprotkb/Q00915" } ], "pmid": "" }, { "name": "fatty acid transport", "id": "GO:0015908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015908", "evidence": [ { "database": "UniProtKB", "id": "Q00915", "url": "https://www.uniprot.org/uniprotkb/Q00915" } ], "pmid": "" }, { "name": "retinoic acid biosynthetic process", "id": "GO:0002138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002138", "evidence": [ { "database": "UniProtKB", "id": "Q00915", "url": "https://www.uniprot.org/uniprotkb/Q00915" } ], "pmid": "" }, { "name": "vitamin A metabolic process", "id": "GO:0006776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006776", "evidence": [ { "database": "UniProtKB", "id": "Q00915", "url": 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"Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 623, "chemical_mass": 69037.0, "gene_names": "Rpa1;5031405K23Rik;70kDa;RF-A;RP-A;Rpa1;Rpa", "protein_name": "Replication protein A 70 kDa DNA-binding subunit", "disease": [], "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": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], "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": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q8VEE4", "url": "https://www.uniprot.org/uniprotkb/Q8VEE4" } ], 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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 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"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": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "P50114", "url": "https://www.uniprot.org/uniprotkb/P50114" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": 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"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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132222522" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Glu4", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815183", "evidence": [ { "id": "rs3389452990", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389452990" } ] } ] }, { "uniprot_canonical_ac": "Q9D321-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Glu58", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/transporter.", "chr_id": "18", "chr_pos": "36815343", "evidence": [ { "id": "rs1133075650", "database": "dbSNP", "url": 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"" }, { "name": "regulation of natural killer cell activation", "id": "GO:0032814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032814", "evidence": [ { "database": "UniProtKB", "id": "Q45HK4", "url": "https://www.uniprot.org/uniprotkb/Q45HK4" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "Q45HK4", "url": "https://www.uniprot.org/uniprotkb/Q45HK4" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "Q45HK4", "url": "https://www.uniprot.org/uniprotkb/Q45HK4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "O09164-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O09164", "url": "https://www.uniprot.org/uniprotkb/O09164" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 251, "chemical_mass": 27392.0, "gene_names": "Sod3;EC-SOD;Sod3", "protein_name": "Extracellular superoxide dismutase [Cu-Zn]", "disease": [ { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:1389", "name": "polyneuropathy", "description": "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain.", "url": "https://disease-ontology.org/term/DOID:1389", "evidence": [ { "id": "1389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1389" } ], "weight": 0.0 }, { "disease_id": "DOID: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). 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"https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "transport vesicle membrane", "id": "GO:0030658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030658", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O88307", "url": "https://www.uniprot.org/uniprotkb/O88307" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": 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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": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "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": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "ameboidal-type cell migration", "id": "GO:0001667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001667", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of axon extension involved in axon guidance", "id": "GO:0048842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048842", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "negative regulation of leukocyte tethering or rolling", "id": "GO:1903237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903237", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "T cell proliferation", "id": "GO:0042098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042098", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "telencephalon cell migration", "id": "GO:0022029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022029", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "chemokine (C-X-C motif) ligand 12 signaling pathway", "id": "GO:0038146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038146", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "CXCL12-activated CXCR4 signaling pathway", "id": "GO:0038160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038160", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "positive regulation of vasculature development", "id": "GO:1904018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904018", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "chemokine receptor binding", "id": "GO:0042379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042379", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P40224", "url": "https://www.uniprot.org/uniprotkb/P40224" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "P43680-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P43680", "url": "https://www.uniprot.org/uniprotkb/P43680" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 377, "chemical_mass": 40898.0, "gene_names": "Sox18;Ragl;Ra;Sox-18;Sox18", "protein_name": "Transcription factor SOX-18", "disease": [ { "disease_id": "DOID:0111360", "name": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome", "description": "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33.", "url": "https://disease-ontology.org/term/DOID:0111360", "evidence": [ { "id": "0111360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111360" } ], "weight": 0.0 }, { "disease_id": "DOID:0111361", "name": "hypotrichosis-lymphedema-telangiectasia syndrome", "description": "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33.", "url": "https://disease-ontology.org/term/DOID:0111361", "evidence": [ { "id": "0111361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111361" } ], "weight": 0.0 } ], "biological_process": [ { "name": "endocardium formation", "id": "GO:0060214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060214", "evidence": [ { "database": "UniProtKB", "id": "P43680", "url": "https://www.uniprot.org/uniprotkb/P43680" } ], "pmid": "" }, { "name": "establishment of endothelial barrier", "id": "GO:0061028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061028", "evidence": [ { "database": "UniProtKB", "id": "P43680", "url": "https://www.uniprot.org/uniprotkb/P43680" } ], "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": "P43680", "url": "https://www.uniprot.org/uniprotkb/P43680" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P43680", "url": "https://www.uniprot.org/uniprotkb/P43680" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P43680", 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"https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of male gonad development", "id": "GO:2000020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000020", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of photoreceptor cell differentiation", "id": "GO:0046533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046533", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of beta-catenin-TCF complex assembly", "id": "GO:1904864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904864", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell apoptotic process", "id": "GO:2001054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001054", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "heart valve development", "id": "GO:0003170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003170", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell differentiation", "id": "GO:0030858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030858", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "chondrocyte hypertrophy", "id": "GO:0003415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003415", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "ureter urothelium development", "id": "GO:0072190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072190", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "metanephric nephron tubule formation", "id": "GO:0072289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072289", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "trachea cartilage development", "id": "GO:0060534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060534", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "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 within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "neural crest cell 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 follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "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": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "otic vesicle development", "id": "GO:0071599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071599", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cartilage condensation", "id": "GO:0001502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001502", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "endocrine pancreas development", "id": "GO:0031018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031018", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "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": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "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": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "ureter smooth muscle cell differentiation", "id": "GO:0072193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072193", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of kidney development", "id": "GO:0090184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090184", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "Sertoli cell development", "id": "GO:0060009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060009", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell differentiation", "id": "GO:0030857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030857", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "positive regulation of cell proliferation involved in heart morphogenesis", "id": "GO:2000138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000138", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "Sertoli cell differentiation", "id": "GO:0060008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060008", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "male germ-line sex determination", "id": "GO:0019100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019100", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "otic vesicle formation", "id": "GO:0030916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030916", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "heart valve morphogenesis", "id": "GO:0003179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003179", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "lacrimal gland development", "id": "GO:0032808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032808", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "astrocyte fate commitment", "id": "GO:0060018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060018", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "prostate gland morphogenesis", "id": "GO:0060512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060512", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of biomineral tissue development", "id": "GO:0070168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070168", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "neural crest cell fate specification", "id": "GO:0014036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014036", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "metanephric tubule development", "id": "GO:0072170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072170", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q04887", "url": "https://www.uniprot.org/uniprotkb/Q04887" } ], "pmid": "" }, { "name": "anterior head development", "id": "GO:0097065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097065", "evidence": [ { "database": "UniProtKB", "id": 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The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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.ebi.ac.uk/QuickGO/term/GO:0032367", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "cholesterol import", "id": "GO:0070508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070508", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "positive regulation of cholesterol metabolic process", "id": "GO:0090205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090205", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "cholesterol transport involved in cholesterol storage", "id": "GO:0010879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010879", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" } ], "molecular_function": [ { "name": "cholesterol binding", "id": "GO:0015485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015485", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" }, { "name": "cholesterol transfer activity", "id": "GO:0120020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120020", "evidence": [ { "database": "UniProtKB", "id": "Q99JV5", "url": "https://www.uniprot.org/uniprotkb/Q99JV5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "Q14BK3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q14BK3", "url": "https://www.uniprot.org/uniprotkb/Q14BK3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus 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": "batch.mouse.16" }, { "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": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "positive regulation of behavior", "id": "GO:0048520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048520", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "embryonic camera-type eye formation", "id": "GO:0060900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060900", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "alveolar primary septum development", "id": "GO:0061143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061143", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "learning", "id": "GO:0007612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007612", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "neuromuscular process", "id": "GO:0050905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050905", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "feeding behavior", "id": "GO:0007631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007631", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "eyelid development in camera-type eye", "id": "GO:0061029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061029", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "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": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "ductus arteriosus closure", "id": "GO:0097070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097070", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "uterus morphogenesis", "id": "GO:0061038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061038", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "ear development", "id": "GO:0043583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043583", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "pulmonary artery morphogenesis", "id": "GO:0061156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061156", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "retinol transport", "id": "GO:0034633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034633", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "diaphragm development", "id": "GO:0060539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060539", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "vocal learning", "id": "GO:0042297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042297", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "paramesonephric duct development", "id": "GO:0061205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061205", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "vitamin A import into cell", "id": "GO:0071939", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071939", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" } ], "molecular_function": [ { "name": "retinol binding", "id": "GO:0019841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019841", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "retinal binding", "id": "GO:0016918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016918", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "retinol transmembrane transporter activity", "id": "GO:0034632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034632", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": "https://www.uniprot.org/uniprotkb/O70491" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O70491", "url": 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"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": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392515695" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "570", "end_pos": "570", "site_lbl": "Pro570", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923509", "evidence": [ { "id": "rs248180336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248180336" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "591", "end_pos": "591", "site_lbl": "Gly591", "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": "165923447", "evidence": [ { "id": "rs3388611753", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611753" } ] } ] }, { "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 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923259", "evidence": [ { "id": "rs3392606411", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392606411" } ] }, { "sequence_org": "L", "sequence_mut": "V", "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" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "623", "end_pos": "623", "site_lbl": "Tyr623", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165923256", "evidence": [ { "id": "rs3392461743", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392461743" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "641", "end_pos": "641", "site_lbl": "Glu641", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165922807", "evidence": [ { "id": "rs3388599050", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388599050" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "659", "end_pos": "659", "site_lbl": "Lys659", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165922753", "evidence": [ { "id": "rs3388611770", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611770" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Arg669", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165922723", "evidence": [ { "id": "rs13459574", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13459574" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Ile670", "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": "165922719", "evidence": [ { "id": "rs3388605617", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605617" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165922720", "evidence": [ { "id": "rs3388606823", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388606823" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "690", "end_pos": "690", "site_lbl": "Phe690", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165921940", "evidence": [ { "id": "rs3392497424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392497424" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "691", "end_pos": "691", "site_lbl": "Arg691", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165921937", "evidence": [ { "id": "rs3392528456", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392528456" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Lys692", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165921546", "evidence": [ { "id": "rs3388616376", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388616376" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "747", "end_pos": "747", "site_lbl": "Thr747", "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": "165921382", "evidence": [ { "id": "rs3388606805", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388606805" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "774", "end_pos": "774", "site_lbl": "Phe774", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165921021", "evidence": [ { "id": "rs3388614573", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614573" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "777", "end_pos": "777", "site_lbl": "Cys777", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165921012", "evidence": [ { "id": "rs3388608525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608525" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Ser790", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165920974", "evidence": [ { "id": "rs3388614392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614392" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "794", "end_pos": "794", "site_lbl": "Tyr794", "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": "165920960", "evidence": [ { "id": "rs3388610803", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388610803" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "7", "end_pos": "7", "site_lbl": "Pro7", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165974664", "evidence": [ { "id": "rs5525831332", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525831332" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Glu817", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165919497", "evidence": [ { "id": "rs3388608560", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608560" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Glu845", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165917702", "evidence": [ { "id": "rs3388610747", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388610747" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Gln846", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165917699", "evidence": [ { "id": "rs3388614642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614642" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "85", "end_pos": "85", "site_lbl": "Thr85", "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": "165958953", "evidence": [ { "id": "rs3388605691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388605691" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "8", "end_pos": "8", "site_lbl": "Leu8", "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": "165974661", "evidence": [ { "id": "rs3388611711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611711" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Lys99", "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": "165958912", "evidence": [ { "id": "rs3392606375", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392606375" } ] } ] }, { "uniprot_canonical_ac": "Q8CFG0-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Trp9", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfatase.", "chr_id": "2", "chr_pos": "165974657", "evidence": [ { "id": "rs3388606796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388606796" } ] } ] } ], "record_id": "batch.mouse.16" }, { "uniprot_canonical_ac": "Q9JMD1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JMD1", "url": "https://www.uniprot.org/uniprotkb/Q9JMD1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 863, "chemical_mass": 97338.0, "gene_names": "Sfmbt1;4930442N21Rik;9330180L21Rik;Sfmbt1;Sfmbt;Smr", "protein_name": "Scm-like with four MBT domains protein 1", "disease": [], "biological_process": [ { "name": "negative regulation of muscle organ development", "id": "GO:0048635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048635", "evidence": [ { "database": "UniProtKB", "id": "Q9JMD1", "url": "https://www.uniprot.org/uniprotkb/Q9JMD1" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9JMD1", "url": "https://www.uniprot.org/uniprotkb/Q9JMD1" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9JMD1", "url": "https://www.uniprot.org/uniprotkb/Q9JMD1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", 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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 by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9455", "name": "lipid storage disease", "description": "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues.", "url": "https://disease-ontology.org/term/DOID:9455", "evidence": [ { "id": "9455", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9455" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": 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regulation of cholesterol storage", "id": "GO:0010886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010886", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta clearance", "id": "GO:1900222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900222", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "negative regulation of cholesterol efflux", "id": "GO:0090370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090370", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "cellular response to low-density lipoprotein particle stimulus", "id": "GO:0071404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071404", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "SREBP signaling pathway", "id": "GO:0032933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032933", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": 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"id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "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": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "SREBP-SCAP-Insig complex", "id": "GO:0032937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032937", "evidence": [ { "database": "UniProtKB", "id": "Q3U1N2", "url": "https://www.uniprot.org/uniprotkb/Q3U1N2" } ], "pmid": "" }, { "name": "SREBP-SCAP complex", "id": "GO:0032936", "url": 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kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0060603", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of retinal ganglion cell axon guidance", "id": "GO:0090260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090260", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of leukocyte chemotaxis", "id": "GO:0002689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002689", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of monocyte chemotaxis", "id": "GO:0090027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090027", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of chemokine-mediated signaling pathway", "id": "GO:0070100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070100", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "corticospinal neuron axon guidance through spinal cord", "id": "GO:0021972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021972", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "induction of negative chemotaxis", "id": "GO:0050929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050929", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "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": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of small GTPase mediated signal transduction", "id": "GO:0051058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051058", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of vascular permeability", "id": "GO:0043116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043116", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "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", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "neuron projection extension", "id": "GO:1990138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990138", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "motor neuron axon guidance", "id": "GO:0008045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008045", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "cell migration involved in sprouting angiogenesis", "id": "GO:0002042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002042", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of actin filament polymerization", "id": "GO:0030837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030837", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of neutrophil chemotaxis", "id": "GO:0090024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090024", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "retinal ganglion cell axon guidance", "id": "GO:0031290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031290", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "dorsal/ventral axon guidance", "id": "GO:0033563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033563", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of axon extension", "id": "GO:0030517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030517", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of mononuclear cell migration", "id": "GO:0071676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071676", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "mammary duct terminal end bud growth", "id": "GO:0060763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060763", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "Roundabout signaling pathway", "id": "GO:0035385", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035385", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "axon extension involved in axon guidance", "id": "GO:0048846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048846", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "telencephalon cell migration", "id": "GO:0022029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022029", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of lamellipodium assembly", "id": "GO:0010593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010593", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "regulation of cellular component size", "id": "GO:0032535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032535", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "epithelial tube morphogenesis", "id": "GO:0060562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060562", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "regulation of axonogenesis", "id": "GO:0050770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050770", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "Q9R1B9", "url": "https://www.uniprot.org/uniprotkb/Q9R1B9" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": 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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", 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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", 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"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", 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"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", 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"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": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "NAD+ binding", "id": "GO:0070403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070403", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "enzyme regulator activity", "id": "GO:0030234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030234", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "nucleosome binding", "id": "GO:0031491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031491", "evidence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0034979", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "histone H3K9 deacetylase activity, NAD-dependent", "id": "GO:0046969", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046969", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "histone deacetylase regulator activity", "id": "GO:0035033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035033", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "TORC2 complex binding", "id": "GO:1904841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904841", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "histone H3K9 deacetylase activity, hydrolytic mechanism", "id": "GO:0032129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032129", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "DNA damage sensor activity", "id": "GO:0140612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140612", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "NAD+-protein-arginine ADP-ribosyltransferase activity", "id": "GO:0106274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106274", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "lncRNA binding", "id": "GO:0106222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106222", "evidence": [ { "database": "UniProtKB", "id": "P59941", "url": "https://www.uniprot.org/uniprotkb/P59941" } ], "pmid": "" }, { "name": "NAD+-protein-lysine ADP-ribosyltransferase 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "positive regulation of transcription by glucose", "id": "GO:0046016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046016", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "cardiac muscle cell myoblast differentiation", "id": "GO:0060379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060379", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "trachea 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "trophectodermal cell differentiation", "id": "GO:0001829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001829", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "platelet activation", "id": "GO:0030168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030168", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": 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"Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta clearance", "id": "GO:1900222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900222", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "erythrocyte development", "id": "GO:0048821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048821", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": 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"https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "positive thymic T cell selection", "id": "GO:0045059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045059", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "cell migration involved in sprouting angiogenesis", "id": "GO:0002042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002042", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "leukocyte differentiation", "id": "GO:0002521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002521", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": "https://www.uniprot.org/uniprotkb/Q9JM73" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "Q9JM73", "url": 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