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"GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB6", "url": "https://www.uniprot.org/uniprotkb/Q9WUB6" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB6", "url": "https://www.uniprot.org/uniprotkb/Q9WUB6" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB6", "url": "https://www.uniprot.org/uniprotkb/Q9WUB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9WUB6", "url": "https://www.uniprot.org/uniprotkb/Q9WUB6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", 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}, { "uniprot_canonical_ac": "Q9Z0S7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9Z0S7", "url": "https://www.uniprot.org/uniprotkb/Q9Z0S7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 217, "chemical_mass": 22897.0, "gene_names": "Cldn9;Cldn9;nmf329", "protein_name": "Claudin-9", "disease": [ { "disease_id": "DOID:0112162", "name": "autosomal recessive nonsyndromic deafness 116", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3.", "url": "https://disease-ontology.org/term/DOID:0112162", "evidence": [ { "id": "0112162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112162" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": 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"biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8K158-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K158", "url": "https://www.uniprot.org/uniprotkb/Q8K158" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 407, "chemical_mass": 44915.0, "gene_names": "Cnppd1;1810031K17Rik;Cnppd1", "protein_name": "Protein CNPPD1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K158", "url": "https://www.uniprot.org/uniprotkb/Q8K158" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q8K158", "url": "https://www.uniprot.org/uniprotkb/Q8K158" } ], "pmid": "" }, { "name": "cyclin-dependent 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"https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q3TP92", "url": "https://www.uniprot.org/uniprotkb/Q3TP92" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q3TP92", "url": "https://www.uniprot.org/uniprotkb/Q3TP92" } ], "pmid": "" } ], "biological_process": [ { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "Q3TP92", "url": "https://www.uniprot.org/uniprotkb/Q3TP92" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q3TP92", "url": "https://www.uniprot.org/uniprotkb/Q3TP92" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling 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"name": "macrophage differentiation", "id": "GO:0030225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030225", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "regulation of necroptotic process", "id": "GO:0060544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060544", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "enzyme activator activity", "id": "GO:0008047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008047", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "peptidase activator activity", "id": "GO:0016504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016504", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": "https://www.uniprot.org/uniprotkb/O35732" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "O35732", "url": 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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:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080301", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.", "url": "https://disease-ontology.org/term/DOID:0080301", "evidence": [ { "id": "0080301", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080301" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0110019", "name": "age related macular degeneration 7", "description": "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.", "url": "https://disease-ontology.org/term/DOID:0110019", "evidence": [ { "id": "0110019", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110019" } ], "weight": 0.0 }, { "disease_id": "DOID:0110021", "name": "age related macular degeneration 9", "description": "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13.", "url": "https://disease-ontology.org/term/DOID:0110021", "evidence": [ { "id": "0110021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110021" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive 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 recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:10140", "name": "dry eye syndrome", "description": "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface.", "url": "https://disease-ontology.org/term/DOID:10140", "evidence": [ { "id": "10140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10140" } ], "weight": 0.0 }, { "disease_id": "DOID:10325", "name": "silicosis", "description": "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.", "url": "https://disease-ontology.org/term/DOID:10325", "evidence": [ { "id": "10325", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10325" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10873", "name": "Kuhnt-Junius degeneration", "description": "", "url": "https://disease-ontology.org/term/DOID:10873", "evidence": [ { "id": "10873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10873" } ], "weight": 0.0 }, { "disease_id": "DOID:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:11339", "name": "pneumocystosis", "description": "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:11339", "evidence": [ { "id": "11339", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11339" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11555", "name": "Fuchs' endothelial dystrophy", "description": "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.", "url": "https://disease-ontology.org/term/DOID:11555", "evidence": [ { "id": "11555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11555" } ], "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:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:14095", "name": "boutonneuse fever", "description": "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities.", "url": "https://disease-ontology.org/term/DOID:14095", "evidence": [ { "id": "14095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14095" } ], "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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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:321", "name": "HTLV-1-associated myelopathy/tropical spastic paraparesis", "description": "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms.", "url": "https://disease-ontology.org/term/DOID:321", "evidence": [ { "id": "321", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:321" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5162", "name": "arteriolosclerosis", "description": "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia.", "url": "https://disease-ontology.org/term/DOID:5162", "evidence": [ { "id": "5162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5162" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:6195", "name": "conjunctivitis", "description": "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids.", "url": "https://disease-ontology.org/term/DOID:6195", "evidence": [ { "id": "6195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6195" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8354", "name": "complement component 3 deficiency", "description": "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections.", "url": "https://disease-ontology.org/term/DOID:8354", "evidence": [ { "id": "8354", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8354" } ], "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: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: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:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "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 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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:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9675", "name": "pulmonary emphysema", "description": "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls.", "url": "https://disease-ontology.org/term/DOID:9675", "evidence": [ { "id": "9675", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9675" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "peptidase inhibitor activity", "id": "GO:0030414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030414", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "contractile muscle fiber", "id": "GO:0043292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043292", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" } ], "biological_process": [ { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "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": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of blood vessel remodeling", "id": "GO:0060313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060313", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to carbohydrate", "id": "GO:0009743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009743", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "embryo implantation", "id": "GO:0007566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007566", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "salivary gland development", "id": "GO:0007431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007431", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of collagen catabolic process", "id": "GO:0010711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010711", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix disassembly", "id": "GO:0010716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010716", "evidence": [ { "database": "UniProtKB", "id": "P21460", "url": "https://www.uniprot.org/uniprotkb/P21460" } ], "pmid": "" }, { "name": "regulation of tissue remodeling", 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The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "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": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "regulation of leukocyte migration", "id": "GO:0002685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002685", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "negative regulation of execution phase of apoptosis", "id": "GO:1900118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900118", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" } ], "molecular_function": [ { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "C-X-C chemokine receptor activity", "id": "GO:0016494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016494", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "C-X-C chemokine binding", "id": "GO:0019958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019958", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "chemokine binding", "id": "GO:0019956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019956", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "O88410", "url": "https://www.uniprot.org/uniprotkb/O88410" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "O88410-1", "start_pos": "22", "end_pos": "22", "site_lbl": "Asn22", "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": 22, "start_aa": "Asn", "end_pos": 22, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn22", "evidence": [ { "id": "O88410", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/O88410#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "O88410-1", "start_pos": "32", "end_pos": "32", "site_lbl": "Asn32", "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": 32, "start_aa": "Asn", "end_pos": 32, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn32", "evidence": [ { "id": "O88410", "database": "UniProtKB", "url": 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"https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" } ], "molecular_function": [ { "name": "electron transfer activity", "id": "GO:0009055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009055", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", 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c to oxygen", "id": "GO:0006123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006123", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "hydrogen peroxide metabolic process", "id": "GO:0042743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042743", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" }, { "name": "mitochondrial electron transport, ubiquinol to cytochrome c", "id": "GO:0006122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006122", "evidence": [ { "database": "UniProtKB", "id": "P00015", "url": "https://www.uniprot.org/uniprotkb/P00015" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P00416-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00416", "url": 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"evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "pmid": "" }, { "name": "lens development in camera-type eye", "id": "GO:0002088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002088", "evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "pmid": "" } ], "molecular_function": [ { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "P04345", "url": "https://www.uniprot.org/uniprotkb/P04345" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P09920-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 208, "chemical_mass": 22421.0, "gene_names": "Csf3;Csf3;Csfg;G-CSF;MGI-IG", "protein_name": "Granulocyte colony-stimulating factor", "disease": [ { "disease_id": "DOID:0050852", "name": "limb ischemia", "description": "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply.", "url": "https://disease-ontology.org/term/DOID:0050852", "evidence": [ { "id": "0050852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050852" } ], "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": 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results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin.", "url": "https://disease-ontology.org/term/DOID:11450", "evidence": [ { "id": "11450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11450" } ], "weight": 0.0 }, { "disease_id": "DOID:12010", "name": "anterior ischemic optic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:12010", "evidence": [ { "id": "12010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12010" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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 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[ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "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": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "cellular response to cytokine stimulus", "id": "GO:0071345", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071345", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "granulocyte colony-stimulating factor signaling 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"cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": "endocytic vesicle lumen", "id": "GO:0071682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071682", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" } ], "molecular_function": [ { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P09920", "url": "https://www.uniprot.org/uniprotkb/P09920" } ], "pmid": "" }, { "name": 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{ "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": 165, "start_aa": "Thr", "end_pos": 165, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr165", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "P09920-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Thr169", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 169, "start_aa": "Thr", "end_pos": 169, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr169", "evidence": [ { "id": "P09920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P09920#ptm_processing" }, { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P12790-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 491, "chemical_mass": 55741.0, "gene_names": "Cyp2b9;Cyp2b-9;Cyp2b9;Cyp2b;Rip", "protein_name": "Cytochrome P450 2B9", "disease": [ { "disease_id": "DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine.", "url": "https://disease-ontology.org/term/DOID:0050742", "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID: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": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "estrogen 2-hydroxylase activity", "id": "GO:0101021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101021", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "testosterone 16-alpha-hydroxylase activity", "id": "GO:0008390", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008390", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "testosterone 16-beta-hydroxylase activity", "id": "GO:0062184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062184", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" }, { "name": "anandamide 8,9 epoxidase activity", "id": "GO:0062187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062187", "evidence": [ { "database": "UniProtKB", "id": 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"P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P12790-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ser128", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P12790", "url": "https://www.uniprot.org/uniprotkb/P12790" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P18340-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 126, "chemical_mass": 14444.0, "gene_names": "Cxcl9;CMK;Cxcl9;Mig;MuMIG;Scyb9;crg-10", "protein_name": "C-X-C motif chemokine 9", "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 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID: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:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "inflammatory response", 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"evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" } ], "molecular_function": [ { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" }, { "name": "CXCR3 chemokine receptor binding", "id": "GO:0048248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048248", "evidence": [ { "database": "UniProtKB", "id": "P18340", "url": "https://www.uniprot.org/uniprotkb/P18340" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P18340-1", "start_pos": "58", "end_pos": "58", "site_lbl": "Asn58", "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": 58, "start_aa": "Asn", "end_pos": 58, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn58", "evidence": [ { "id": "P18340", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P18340#ptm_processing" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P18406-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18406", 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"evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor (ligand) superfamily member 11 production", "id": "GO:2000309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000309", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of osteoblast 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"https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "labyrinthine layer blood vessel development", "id": "GO:0060716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060716", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "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": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of phospholipase activity", "id": "GO:0010518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010518", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of cartilage development", "id": "GO:0061036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061036", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "atrial septum morphogenesis", "id": "GO:0060413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060413", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "intussusceptive angiogenesis", "id": "GO:0002041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002041", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "apoptotic process involved in heart morphogenesis", "id": "GO:0003278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003278", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "chondroblast differentiation", "id": "GO:0060591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060591", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of ceramide biosynthetic process", "id": "GO:2000304", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000304", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" } ], "molecular_function": [ { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P18406", "url": "https://www.uniprot.org/uniprotkb/P18406" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 56988.0, "gene_names": "Cyp2d11;Cyp2d-11;Cyp2d11;Cyp2d;P450-2D", "protein_name": "Cytochrome P450 2D11", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:13839", "name": "extrapyramidal and movement disease", "description": "", "url": "https://disease-ontology.org/term/DOID:13839", "evidence": [ { "id": "13839", "database": "AGR", "url": 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The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID: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.", 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} ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "P24457", "url": "https://www.uniprot.org/uniprotkb/P24457" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": 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Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14654", "name": "prostatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:14654", "evidence": [ { "id": "14654", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14654" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID: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:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "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": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P50228", "url": "https://www.uniprot.org/uniprotkb/P50228" } ], "pmid": "" 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"evidence": [ { "id": "0080784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080784" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID: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 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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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"Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" } ], "molecular_function": [ { "name": "C-C chemokine receptor activity", "id": "GO:0016493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016493", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" }, { "name": "C-C chemokine binding", "id": "GO:0019957", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019957", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": "https://www.uniprot.org/uniprotkb/Q810W6" } ], "pmid": "" }, { "name": "interleukin-8 binding", "id": "GO:0019959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019959", "evidence": [ { "database": "UniProtKB", "id": "Q810W6", "url": 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"sequence_mut": "N", "comment": "Loss of catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "Q8BG15", "url": "https://www.uniprot.org/uniprotkb/Q8BG15" }, { "database": "PubMed", "id": "28851713", "url": "https://glygen.org/publication/PubMed/28851713" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8BGQ2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BGQ2", "url": "https://www.uniprot.org/uniprotkb/Q8BGQ2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 534, "chemical_mass": 58504.0, "gene_names": "Csrnp2;CSRNP-2;Csnrp2;Csrnp2;Fam130a1;Taip12;taip-12", "protein_name": "Cysteine/serine-rich nuclear protein 2", "disease": [], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", 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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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" } ], "biological_process": [ { "name": "chemotaxis", "id": "GO:0006935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006935", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "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": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "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": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "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": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" }, { "name": "CXCR3 chemokine receptor binding", "id": "GO:0048248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048248", "evidence": [ { "database": "UniProtKB", "id": "Q9JHH5", "url": "https://www.uniprot.org/uniprotkb/Q9JHH5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9JM84-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 148, "chemical_mass": 16451.0, "gene_names": "Cst5;Cst10;Cst5;DD72", "protein_name": "Cystatin-D", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" } ], "biological_process": [ { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "bone mineralization", "id": "GO:0030282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030282", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "growth plate cartilage chondrocyte growth", "id": "GO:0003430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003430", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" }, { "name": "endochondral ossification", "id": "GO:0001958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001958", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" } ], "molecular_function": [ { "name": "cysteine-type endopeptidase inhibitor activity", "id": "GO:0004869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004869", "evidence": [ { "database": "UniProtKB", "id": "Q9JM84", "url": "https://www.uniprot.org/uniprotkb/Q9JM84" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9JMA7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 504, "chemical_mass": 57987.0, "gene_names": "Cyp3a41a;Cyp3a41b;Cyp3a41b;Cyp3a41", "protein_name": "Cytochrome P450 3A41", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:0080630", "name": "B-lymphoblastic leukemia/lymphoma", "description": "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow.", "url": "https://disease-ontology.org/term/DOID:0080630", "evidence": [ { "id": "0080630", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080630" } ], "weight": 0.0 }, { "disease_id": "DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension.", "url": "https://disease-ontology.org/term/DOID:10825", "evidence": [ { "id": "10825", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:2030", "name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "biological_process": [ { "name": "lipid hydroxylation", "id": "GO:0002933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002933", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "estrogen metabolic process", "id": "GO:0008210", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008210", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "retinoic acid metabolic process", "id": "GO:0042573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042573", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "xenobiotic catabolic process", "id": "GO:0042178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042178", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "oxidative demethylation", "id": "GO:0070989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070989", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "alkaloid catabolic process", "id": "GO:0009822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009822", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" } ], "molecular_function": [ { "name": "retinoic acid 4-hydroxylase activity", "id": "GO:0008401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008401", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "estrogen 16-alpha-hydroxylase activity", "id": "GO:0101020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0101020", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "demethylase activity", "id": "GO:0032451", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032451", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" }, { "name": "testosterone 6-beta-hydroxylase activity", "id": "GO:0050649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050649", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9JMA7", "url": "https://www.uniprot.org/uniprotkb/Q9JMA7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9WUQ5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 99, "chemical_mass": 11716.0, "gene_names": "Cxcl14;1110031L23Rik;1200006I23Rik;BMAC;BRAK;Bmac;Cxcl14;KS1;Kec;Ks1;MIP-2g;MIP2gamma;Mip2g;NJAC;Scyb14;bolekine", "protein_name": "C-X-C motif chemokine 14", "disease": [ { "disease_id": "DOID:0050156", "name": "idiopathic pulmonary fibrosis", "description": "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe.", "url": "https://disease-ontology.org/term/DOID:0050156", "evidence": [ { "id": "0050156", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050156" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" } ], "biological_process": [ { "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": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "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": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q9WUQ5", "url": "https://www.uniprot.org/uniprotkb/Q9WUQ5" } ], "pmid": "" }, { "name": "positive regulation of natural 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"end_pos": "224", "site_lbl": "Asp224", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60841010", "evidence": [ { "id": "rs3408640653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408640653" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Phe228", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60840999", "evidence": [ { "id": "rs3408716313", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3408716313" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "230", "end_pos": "230", "site_lbl": "Ser230", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60840992", "evidence": [ { "id": "rs3389414188", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414188" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "264", "end_pos": "264", "site_lbl": "Ala264", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60840890", "evidence": [ { "id": "rs3389520012", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520012" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Phe287", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline 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"evidence": [ { "id": "rs3389505599", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389505599" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Val404", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60836849", "evidence": [ { "id": "rs3389470766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470766" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "410", "end_pos": "410", "site_lbl": "Ala410", "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": "18", "chr_pos": "60836832", "evidence": [ { "id": "rs3389505637", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389505637" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Tyr437", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60835973", "evidence": [ { "id": "rs3389513678", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389513678" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Thr485", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60833556", "evidence": [ { "id": "rs3389516112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516112" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Cys486", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60833553", "evidence": [ { "id": "rs3389516044", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516044" } ] } ], "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Loss of deacetylase activity. No effect on sulfotransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3UHN9", "url": "https://www.uniprot.org/uniprotkb/Q3UHN9" }, { "database": "PubMed", "id": "12590599", "url": "https://glygen.org/publication/PubMed/12590599" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "4", "end_pos": "4", "site_lbl": "Leu4", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60846298", "evidence": [ { "id": "rs262807131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262807131" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "506", "end_pos": "506", "site_lbl": "Asp506", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60833493", "evidence": [ { "id": "rs3389470735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470735" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "524", "end_pos": "524", "site_lbl": "Ser524", "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": "18", "chr_pos": "60832758", "evidence": [ { "id": "rs107806750", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs107806750" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Leu540", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60832710", "evidence": [ { "id": "rs3389453880", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389453880" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Lys606", "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": "18", "chr_pos": "60831541", "evidence": [ { "id": "rs3389516051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516051" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "639", "end_pos": "639", "site_lbl": "Thr639", "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": "18", "chr_pos": "60830194", "evidence": [ { "id": "rs3389504167", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504167" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "661", "end_pos": "661", "site_lbl": "Phe661", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60828571", "evidence": [ { "id": "rs3389414241", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414241" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "714", "end_pos": "714", "site_lbl": "Tyr714", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60828413", "evidence": [ { "id": "rs3389504477", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504477" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "715", "end_pos": "715", "site_lbl": "Gln715", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60828410", "evidence": [ { "id": "rs3389453847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389453847" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Lys71", "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": "18", "chr_pos": "60846097", "evidence": [ { "id": "rs3389497547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389497547" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "73", "end_pos": "73", "site_lbl": "Val73", "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": "18", "chr_pos": "60846091", "evidence": [ { "id": "rs3389504497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504497" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "779", "end_pos": "779", "site_lbl": "Lys779", "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": "18", "chr_pos": "60824339", "evidence": [ { "id": "rs3389470698", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389470698" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Pro785", "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": "18", "chr_pos": "60824323", "evidence": [ { "id": "rs3389516048", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389516048" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Met789", "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": "18", "chr_pos": "60824309", "evidence": [ { "id": "rs3389453868", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389453868" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Val798", "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": "18", "chr_pos": "60824284", "evidence": [ { "id": "rs3389414259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414259" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Phe816", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60823119", "evidence": [ { "id": "rs3389504166", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504166" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "850", "end_pos": "850", "site_lbl": "Asp850", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60822417", "evidence": [ { "id": "rs3389462272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389462272" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Val87", "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": "18", "chr_pos": "60824284", "evidence": [ { "id": "rs3389414259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389414259" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Tyr93", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, sulfate related/sulfotransferase.", "chr_id": "18", "chr_pos": "60846031", "evidence": [ { "id": "rs3389504534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389504534" } ] } ] }, { "uniprot_canonical_ac": "Q3UHN9-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Lys614", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on deacetylase activity. 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"site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G10995NB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G37626XQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 165, "start_aa": "Asn", "end_pos": 165, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn165", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ], "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NFC->KFC).", "chr_id": "12", "chr_pos": "109425623", "evidence": [ { "id": "rs3389227855", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389227855" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "174", "end_pos": "174", "site_lbl": "Asn174", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G03584KV", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G10995NB", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G37626XQ", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 174, "start_aa": "Asn", "end_pos": 174, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn174", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Ser216", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 216, "start_aa": "Ser", "end_pos": 216, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser216", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "224", "end_pos": "224", "site_lbl": "Thr224", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G96881BQ", "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": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "153", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/153" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 224, "start_aa": "Thr", "end_pos": 224, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr224", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "258", "end_pos": "258", "site_lbl": "Thr258", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 258, "start_aa": "Thr", "end_pos": 258, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr258", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Thr267", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 267, "start_aa": "Thr", "end_pos": 267, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr267", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Thr271", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "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": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "T", "relation": "attached", "comment": "O-linked (GalNAc...) threonine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 271, "start_aa": "Thr", "end_pos": 271, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr271", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "295", "end_pos": "295", "site_lbl": "Asn295", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 295, "start_aa": "Asn", "end_pos": 295, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn295", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q09163-1", "start_pos": "94", "end_pos": "94", "site_lbl": "Ser94", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01614ZM", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G65562ZE", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: S-94, N-100, N-165, N-174, S-216, T-224, T-258, T-267, T-271", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "G71142DF", "type": "O-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: SER-94 AND SER-216 ; SER-94 AND SER-216", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" }, { "id": "GLY_000041", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000041" } ] }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GalNAcylation", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GalNAc...) serine;O-GalNAcylation", "icn3d_view": {}, "start_pos": 94, "start_aa": "Ser", "end_pos": 94, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser94", "evidence": [ { "id": "Q09163", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q09163#ptm_processing" }, { "id": "9118998", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/9118998" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9DAM9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 344, "chemical_mass": 38260.0, "gene_names": "Fank1;1700007B22Rik;FANK1S;Fank1", "protein_name": "Fibronectin type 3 and ankyrin repeat domains 1 protein", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "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": "Q9DAM9", "url": "https://www.uniprot.org/uniprotkb/Q9DAM9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "A2AUU0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 281, "chemical_mass": 31670.0, "gene_names": "Mettl8;Mettl8;Tip", "protein_name": "tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial", "disease": [], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial translation", "id": "GO:0070131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070131", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mitochondrial tRNA modification", "id": "GO:0070900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070900", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "tRNA C3-cytosine methylation", "id": "GO:0106217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106217", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "tRNA processing", "id": "GO:0008033", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008033", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "methylation", "id": "GO:0032259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032259", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" } ], "molecular_function": [ { "name": "histone acetyltransferase activity", "id": "GO:0004402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004402", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "mRNA methyltransferase activity", "id": "GO:0008174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008174", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "tRNA (cytidine-3-)-methyltransferase activity", "id": "GO:0052735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052735", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "S-adenosylmethionine-dependent methyltransferase activity", "id": "GO:0008757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008757", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" }, { "name": "RNA methyltransferase activity", "id": "GO:0008173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008173", "evidence": [ { "database": "UniProtKB", "id": "A2AUU0", "url": "https://www.uniprot.org/uniprotkb/A2AUU0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q8BHE1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 238, "chemical_mass": 28396.0, "gene_names": "Gemin8;B130034M20Rik;B930082C09Rik;Fam51a1;Gemin8;gemin-8", "protein_name": "Gem-associated protein 8", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "SMN complex", "id": "GO:0032797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032797", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "SMN-Sm protein complex", "id": "GO:0034719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034719", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" }, { "name": "Gemini of Cajal bodies", "id": "GO:0097504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097504", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" } ], "biological_process": [ { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8BHE1-1", "start_pos": "122", "end_pos": "122", "site_lbl": "Ser122", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8BHE1", "url": "https://www.uniprot.org/uniprotkb/Q8BHE1" } ] } ] } ], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q07646-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 335, "chemical_mass": 38907.0, "gene_names": "Mest;121a;Mest;Peg1", "protein_name": "Mesoderm-specific transcript protein", "disease": [ { "disease_id": "DOID:0050476", "name": "Barth syndrome", "description": "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.", "url": "https://disease-ontology.org/term/DOID:0050476", "evidence": [ { "id": "0050476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050476" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" } ], "molecular_function": [ { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "catalytic activity", "id": "GO:0003824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003824", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" } ], "biological_process": [ { "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": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "response to retinoic acid", "id": "GO:0032526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032526", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "negative regulation of protein localization to plasma membrane", "id": "GO:1903077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903077", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "regulation of lipid storage", "id": "GO:0010883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010883", "evidence": [ { "database": "UniProtKB", "id": "Q07646", "url": "https://www.uniprot.org/uniprotkb/Q07646" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": 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"description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:1849", "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2917", "name": "cryoglobulinemia", "description": "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures.", "url": "https://disease-ontology.org/term/DOID:2917", "evidence": [ { "id": "2917", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2917" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3008", "name": "invasive ductal carcinoma", "description": "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated.", "url": "https://disease-ontology.org/term/DOID:3008", "evidence": [ { "id": "3008", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3008" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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": 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activity", "id": "GO:0042626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042626", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "ABC-type xenobiotic transporter activity", "id": "GO:0008559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008559", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "P21447", "url": "https://www.uniprot.org/uniprotkb/P21447" } ], "pmid": "" }, { "name": "phosphatidylethanolamine flippase 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389005180" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "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": "8", "chr_pos": "111620333", "evidence": [ { "id": "rs3388980265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388980265" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "283", "end_pos": "283", "site_lbl": "Ala283", "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": "8", "chr_pos": "111620029", "evidence": [ { "id": "rs220855249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220855249" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "297", "end_pos": "297", "site_lbl": "Ala297", "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": "8", "chr_pos": "111619987", "evidence": [ { "id": "rs3389006045", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006045" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "322", "end_pos": "322", "site_lbl": "Pro322", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111618792", "evidence": [ { "id": "rs3389017782", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017782" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Gly344", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111618726", "evidence": [ { "id": "rs3388999251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999251" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "401", "end_pos": "401", "site_lbl": "Val401", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616947", "evidence": [ { "id": "rs3399131754", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399131754" } ] }, { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616948", "evidence": [ { "id": "rs3398686448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398686448" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Ser402", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616945", "evidence": [ { "id": "rs3398686469", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398686469" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "405", "end_pos": "405", "site_lbl": "Asp405", "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": "8", "chr_pos": "111616936", "evidence": [ { "id": "rs3399580530", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399580530" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "406", "end_pos": "406", "site_lbl": "Thr406", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616933", "evidence": [ { "id": "rs3399854956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399854956" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "407", "end_pos": "407", "site_lbl": "Ala407", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616929", "evidence": [ { "id": "rs3399854922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399854922" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "420", "end_pos": "420", "site_lbl": "Val420", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111616891", "evidence": [ { "id": "rs221135779", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221135779" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "440", "end_pos": "440", "site_lbl": "Ala440", "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": "8", "chr_pos": "111616831", "evidence": [ { "id": "rs3402644581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3402644581" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "480", "end_pos": "480", "site_lbl": "Pro480", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615889", "evidence": [ { "id": "rs256334310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256334310" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Thr487", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615868", "evidence": [ { "id": "rs227387246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227387246" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "489", "end_pos": "489", "site_lbl": "Arg489", "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": "8", "chr_pos": "111615862", "evidence": [ { "id": "rs260031236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260031236" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Val493", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615850", "evidence": [ { "id": "rs3388999266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999266" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "512", "end_pos": "512", "site_lbl": "Arg512", "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": "8", "chr_pos": "111615793", "evidence": [ { "id": "rs223669014", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223669014" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "517", "end_pos": "517", "site_lbl": "Glu517", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615779", "evidence": [ { "id": "rs3399598199", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399598199" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "519", "end_pos": "519", "site_lbl": "Leu519", "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": "8", "chr_pos": "111615772", "evidence": [ { "id": "rs3399642746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399642746" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "521", "end_pos": "521", "site_lbl": "Ala521", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615767", "evidence": [ { "id": "rs3389008796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389008796" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "522", "end_pos": "522", "site_lbl": "Trp522", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615762", "evidence": [ { "id": "rs3388988152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388988152" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Trp526", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615752", "evidence": [ { "id": "rs3388999287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999287" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "527", "end_pos": "527", "site_lbl": "Arg527", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615749", "evidence": [ { "id": "rs3388963731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388963731" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "535", "end_pos": "535", "site_lbl": "Pro535", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615725", "evidence": [ { "id": "rs3389005137", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389005137" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Gln553", "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": "8", "chr_pos": "111615669", "evidence": [ { "id": "rs3399107956", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399107956" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "560", "end_pos": "560", "site_lbl": "His560", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111615649", "evidence": [ { "id": "rs3399698752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399698752" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "642", "end_pos": "642", "site_lbl": "Glu642", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111614363_111614364insACCTCAACCATCAC", "evidence": [ { "id": "rs3412868916", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412868916" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Val698", "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": "8", "chr_pos": "111614050", "evidence": [ { "id": "rs32619831", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs32619831" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "700", "end_pos": "700", "site_lbl": "Leu700", "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": "8", "chr_pos": "111614043", "evidence": [ { "id": "rs3399712443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399712443" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "712", "end_pos": "712", "site_lbl": "Pro712", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111614007", "evidence": [ { "id": "rs3399107930", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399107930" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "757", "end_pos": "757", "site_lbl": "Glu757", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613790", "evidence": [ { "id": "rs3389010425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010425" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "759", "end_pos": "759", "site_lbl": "Glu759", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613785", "evidence": [ { "id": "rs3389005198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389005198" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Leu760", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613782", "evidence": [ { "id": "rs3389017796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017796" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Ile775", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613736", "evidence": [ { "id": "rs864264140", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs864264140" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "786", "end_pos": "786", "site_lbl": "Tyr786", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111613702", "evidence": [ { "id": "rs3389016966", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389016966" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "787", "end_pos": "787", "site_lbl": "Cys787", "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": "8", "chr_pos": "111613701", "evidence": [ { "id": "rs3388999259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999259" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "861", "end_pos": "861", "site_lbl": "Ala861", "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": "8", "chr_pos": "111612984", "evidence": [ { "id": "rs3389013976", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013976" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "877", "end_pos": "877", "site_lbl": "Val877", "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": "8", "chr_pos": "111612937", "evidence": [ { "id": "rs236241445", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236241445" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "910", "end_pos": "910", "site_lbl": "Val910", "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": "8", "chr_pos": "111610764", "evidence": [ { "id": "rs3388988150", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388988150" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "914", "end_pos": "914", "site_lbl": "Thr914", "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": "8", "chr_pos": "111610751", "evidence": [ { "id": "rs238343377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238343377" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "920", "end_pos": "920", "site_lbl": "Val920", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/nucleotide synthesis.", "chr_id": "8", "chr_pos": "111610733", "evidence": [ { "id": "rs220733522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220733522" } ] } ] }, { "uniprot_canonical_ac": "Q7TMC8-1", "start_pos": "948", "end_pos": "948", "site_lbl": "Asn948", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and 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"" }, { "name": "box H/ACA snoRNP complex", "id": "GO:0031429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031429", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "box H/ACA telomerase RNP complex", "id": "GO:0090661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090661", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "chromosome, telomeric region", "id": "GO:0000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000781", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" }, { "name": "ribonucleoprotein 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"pseudouridine synthesis", "id": "GO:0001522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001522", "evidence": [ { "database": "UniProtKB", "id": "Q9CY66", "url": "https://www.uniprot.org/uniprotkb/Q9CY66" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q78JE5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 402, "chemical_mass": 44203.0, "gene_names": "Fbxo22;0610033L19Rik;1600016C16Rik;Fbx22;Fbxo22", "protein_name": "F-box only protein 22", "disease": [], "biological_process": [ { "name": "regulation of myotube differentiation", "id": "GO:0010830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010830", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "regulation of skeletal muscle fiber development", "id": "GO:0048742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048742", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "nucleocytoplasmic transport", "id": "GO:0006913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006913", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "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": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q78JE5", "url": "https://www.uniprot.org/uniprotkb/Q78JE5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P08101-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 330, "chemical_mass": 36695.0, "gene_names": "Fcgr2b;Fcgr2;CD32;F630109E10Rik;Fc[g]RII;FcgRII;Fcgr2a;Fcgr2b;Fcgr2;Fcr-2;Fcr-3;Ly-17;Ly-m20;LyM-1;Lym-1;fcRII", "protein_name": "Low affinity immunoglobulin gamma Fc region receptor II", "disease": [ { "disease_id": "DOID:0050745", "name": "diffuse large B-cell lymphoma", "description": "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern.", "url": "https://disease-ontology.org/term/DOID:0050745", "evidence": [ { "id": "0050745", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050745" } ], "weight": 0.0 }, { "disease_id": "DOID:0051061", "name": "stroke", "description": "A cerebrovascular disease that is characterized by disruption of blood flow to the brain resulting in damage to brain cells due to a lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:0051061", "evidence": [ { "id": "0051061", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": 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"DOID:0080179", "name": "haemophilus meningitis", "description": "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection.", "url": "https://disease-ontology.org/term/DOID:0080179", "evidence": [ { "id": "0080179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080179" } ], "weight": 0.0 }, { "disease_id": "DOID:1037", "name": "lymphoid leukemia", "description": "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:1037", "evidence": [ { "id": "1037", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1037" } ], "weight": 0.0 }, { "disease_id": "DOID:1098", "name": "hemolytic disease of the fetus", "description": "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis.", "url": "https://disease-ontology.org/term/DOID:1098", "evidence": [ { "id": "1098", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1098" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:1227", "name": "neutropenia", "description": "", "url": "https://disease-ontology.org/term/DOID:1227", "evidence": [ { "id": "1227", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1227" } ], "weight": 0.0 }, { "disease_id": "DOID:12365", "name": "malaria", "description": "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.", "url": "https://disease-ontology.org/term/DOID:12365", "evidence": [ { "id": "12365", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12365" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1556", "name": "arthus reaction", "description": "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls.", "url": "https://disease-ontology.org/term/DOID:1556", "evidence": [ { "id": "1556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1556" } ], "weight": 0.0 }, { "disease_id": "DOID:1579", "name": "respiratory system disease", "description": "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm.", "url": "https://disease-ontology.org/term/DOID:1579", "evidence": [ { "id": "1579", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1579" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.", "url": "https://disease-ontology.org/term/DOID:1826", "evidence": [ { "id": "1826", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ], "weight": 0.0 }, { "disease_id": "DOID:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:583", "name": "hemolytic anemia", "description": "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made.", "url": "https://disease-ontology.org/term/DOID:583", "evidence": [ { "id": "583", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:583" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" } ], "biological_process": [ { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "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": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "regulation of dendritic spine maintenance", "id": "GO:1902950", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902950", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "positive regulation of response to endoplasmic reticulum stress", "id": "GO:1905898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905898", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "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": "P08101", "url": "https://www.uniprot.org/uniprotkb/P08101" } ], "pmid": "" }, { "name": "cerebellum development", "id": "GO:0021549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021549", 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} ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": 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"UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "NAD binding", "id": "GO:0051287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051287", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "disordered domain specific binding", "id": "GO:0097718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097718", "evidence": [ { "database": "UniProtKB", "id": "P16858", "url": "https://www.uniprot.org/uniprotkb/P16858" } ], "pmid": "" }, { "name": "glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity", "id": "GO:0004365", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004365", "evidence": [ { 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"evidence": [ { "database": "UniProtKB", "id": "Q99N11", "url": "https://www.uniprot.org/uniprotkb/Q99N11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "Q9CWP8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CWP8", "url": "https://www.uniprot.org/uniprotkb/Q9CWP8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 107, "chemical_mass": 12403.0, "gene_names": "Pold4;2410012M21Rik;Pold4;Polds;p12", "protein_name": "DNA polymerase delta subunit 4", "disease": [], "cellular_component": [ { "name": "delta DNA polymerase complex", "id": "GO:0043625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043625", "evidence": [ { "database": "UniProtKB", "id": "Q9CWP8", "url": "https://www.uniprot.org/uniprotkb/Q9CWP8" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": 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hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" }, { "name": "proton motive force-driven mitochondrial ATP synthesis", "id": "GO:0042776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042776", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" }, { "name": "mitochondrial electron transport, succinate to ubiquinone", "id": "GO:0006121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006121", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" }, { "name": "regulation of catecholamine secretion", "id": "GO:0050433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050433", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" }, { "name": "succinate dehydrogenase (quinone) activity", "id": "GO:0008177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008177", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" }, { "name": "ubiquinone binding", "id": "GO:0048039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048039", "evidence": [ { "database": "UniProtKB", "id": "Q9CXV1", "url": "https://www.uniprot.org/uniprotkb/Q9CXV1" } ], "pmid": "" } ], 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"Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 242, "chemical_mass": 26679.0, "gene_names": "Dnajb3;Dnajb3;Hsj3;MSJ-1;Msj1", "protein_name": "DnaJ homolog subfamily B member 3", "disease": [ { "disease_id": "DOID:0110305", "name": "autosomal dominant limb-girdle muscular dystrophy type 1", "description": "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.", "url": "https://disease-ontology.org/term/DOID:0110305", "evidence": [ { "id": "0110305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110305" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" } ], "molecular_function": [ { "name": "unfolded protein binding", "id": "GO:0051082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051082", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "Hsp70 protein binding", "id": "GO:0030544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030544", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" }, { "name": "protein folding chaperone", "id": "GO:0044183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044183", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" } ], "biological_process": [ { "name": "protein folding", "id": "GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "O35723", "url": "https://www.uniprot.org/uniprotkb/O35723" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.14" }, { "uniprot_canonical_ac": "P22387-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 202, "chemical_mass": 22809.0, "gene_names": "Edn1;ET-1;Edn1;PPET1;preproET", "protein_name": "Endothelin-1", "disease": [ { "disease_id": "DOID:0050152", "name": "aspiration pneumonia", "description": "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough.", "url": "https://disease-ontology.org/term/DOID:0050152", "evidence": [ { "id": "0050152", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050152" } ], "weight": 0.0 }, { "disease_id": "DOID:0050758", "name": "metabolic acidosis", "description": "An acquired metabolic disease that characterized by excessive production of acid.", "url": "https://disease-ontology.org/term/DOID:0050758", "evidence": [ { "id": "0050758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050758" } ], "weight": 0.0 }, { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "disease_id": "DOID:0060224", "name": "atrial fibrillation", "description": "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.", "url": "https://disease-ontology.org/term/DOID:0060224", "evidence": [ { "id": "0060224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060224" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "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: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: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:1074", "name": "kidney failure", "description": "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood.", "url": "https://disease-ontology.org/term/DOID:1074", "evidence": [ { "id": "1074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1074" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10941", "name": "intracranial aneurysm", "description": "", "url": "https://disease-ontology.org/term/DOID:10941", "evidence": [ { "id": "10941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10941" } ], "weight": 0.0 }, { "disease_id": "DOID:10952", "name": "nephritis", "description": "A kidney disease that is characterized by an inflammation of the kidneys.", "url": "https://disease-ontology.org/term/DOID:10952", "evidence": [ { "id": "10952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10952" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:114", "name": "heart disease", "description": "A cardiovascular system disease that involves the heart.", "url": "https://disease-ontology.org/term/DOID:114", "evidence": [ { "id": "114", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:114" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13544", "name": "low tension glaucoma", "description": "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision.", "url": "https://disease-ontology.org/term/DOID:13544", "evidence": [ { "id": "13544", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13544" } ], "weight": 0.0 }, { "disease_id": "DOID:13550", "name": "angle-closure glaucoma", "description": "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis.", "url": "https://disease-ontology.org/term/DOID:13550", "evidence": [ { "id": "13550", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13550" } ], "weight": 0.0 }, { "disease_id": "DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures.", "url": "https://disease-ontology.org/term/DOID:13641", "evidence": [ { "id": "13641", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1687", "name": "neovascular glaucoma", "description": "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases.", "url": "https://disease-ontology.org/term/DOID:1687", "evidence": [ { "id": "1687", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1687" } ], "weight": 0.0 }, { "disease_id": "DOID:1875", "name": "impotence", "description": "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity.", "url": "https://disease-ontology.org/term/DOID:1875", "evidence": [ { "id": "1875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1875" } ], "weight": 0.0 }, { "disease_id": "DOID:1891", "name": "optic nerve disease", "description": "A cranial nerve disease that is located_in the optic nerve.", "url": "https://disease-ontology.org/term/DOID:1891", "evidence": [ { "id": "1891", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1891" } ], "weight": 0.0 }, { "disease_id": "DOID:1924", "name": "hypogonadism", "description": "A gonadal disease that is characterized by diminished functional activity of the gonads.", "url": "https://disease-ontology.org/term/DOID:1924", "evidence": [ { "id": "1924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1924" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2388", "name": "renal artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:2388", "evidence": [ { "id": "2388", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2388" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:4676", "name": "uremia", "description": "", "url": "https://disease-ontology.org/term/DOID:4676", "evidence": [ { "id": "4676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4676" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:5845", "name": "anterolateral myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:5845", "evidence": [ { "id": "5845", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5845" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8252", "name": "chronic rhinitis", "description": "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding.", "url": "https://disease-ontology.org/term/DOID:8252", "evidence": [ { "id": "8252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8252" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:900", "name": "hepatopulmonary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:900", "evidence": [ { "id": "900", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:900" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "weight": 0.0 }, { "disease_id": "DOID:9719", "name": "neovascular inflammatory vitreoretinopathy", "description": "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5.", "url": "https://disease-ontology.org/term/DOID:9719", "evidence": [ { "id": "9719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9719" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "thyroid gland development", "id": "GO:0030878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030878", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "endothelin receptor signaling pathway", "id": "GO:0086100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086100", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "epithelial fluid transport", "id": "GO:0042045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042045", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "calcium-mediated signaling", "id": "GO:0019722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019722", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071526", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "respiratory gaseous exchange by respiratory system", "id": "GO:0007585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007585", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "regulation of vasoconstriction", "id": "GO:0019229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019229", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of urine volume", "id": "GO:0035810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035810", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of renal sodium excretion", "id": "GO:0035815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035815", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "negative regulation of hormone secretion", "id": "GO:0046888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046888", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "membrane depolarization", "id": "GO:0051899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051899", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to xenobiotic stimulus", "id": "GO:0071466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071466", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "histamine secretion", "id": "GO:0001821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001821", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of heart rate", "id": "GO:0010460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010460", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": 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"response to amino acid", "id": "GO:0043200", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043200", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of prostaglandin biosynthetic process", "id": "GO:0031394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031394", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { 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"rhythmic excitation", "id": "GO:0043179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043179", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of chemokine-mediated signaling pathway", "id": "GO:0070101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070101", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "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": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "cellular response to mineralocorticoid stimulus", "id": "GO:0071389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071389", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to salt", "id": "GO:1902074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902074", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "positive regulation of odontogenesis", "id": "GO:0042482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042482", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": "https://www.uniprot.org/uniprotkb/P22387" } ], "pmid": "" }, { "name": "pharyngeal arch artery morphogenesis", "id": "GO:0061626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061626", "evidence": [ { "database": "UniProtKB", "id": "P22387", "url": 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"evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:10914", "name": "amnestic disorder", "description": "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information.", "url": "https://disease-ontology.org/term/DOID:10914", "evidence": [ { "id": "10914", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10914" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's 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"name": "regulation of circadian sleep/wake cycle, sleep", "id": "GO:0045187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045187", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "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": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": 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"P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "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": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to amphetamine", "id": "GO:0001975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001975", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "regulation of dopamine secretion", "id": "GO:0014059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014059", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "regulation of lipid metabolic process", "id": "GO:0019216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019216", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "negative regulation of blood pressure", "id": "GO:0045776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045776", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "arachidonate secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "negative regulation of synaptic transmission, glutamatergic", "id": "GO:0051967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051967", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to morphine", "id": "GO:0043278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043278", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to cocaine", "id": "GO:0042220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042220", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "behavioral response to cocaine", "id": "GO:0048148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048148", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "adenylate cyclase-activating dopamine receptor signaling pathway", "id": "GO:0007191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007191", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "adenylate cyclase-inhibiting dopamine receptor signaling pathway", "id": "GO:0007195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007195", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "regulation of potassium ion transport", "id": "GO:0043266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043266", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "regulation of blood volume by renin-angiotensin", "id": "GO:0002016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002016", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "musculoskeletal movement, spinal reflex action", "id": "GO:0050883", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050883", "evidence": [ { "database": "UniProtKB", "id": "P30728", "url": "https://www.uniprot.org/uniprotkb/P30728" } ], "pmid": "" }, { "name": "negative regulation of cytosolic calcium ion 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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:1587", "name": "thrombocytopenia due to platelet alloimmunization", "description": "", "url": "https://disease-ontology.org/term/DOID:1587", "evidence": [ { "id": "1587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1587" } ], "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:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:4780", "name": "anti-basement membrane glomerulonephritis", "description": "A Goodpasture syndrome that is characterized by damage to only kidney capillaries.", "url": "https://disease-ontology.org/term/DOID:4780", "evidence": [ { "id": "4780", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4780" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:614", "name": "lymphopenia", "description": "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood.", "url": "https://disease-ontology.org/term/DOID:614", "evidence": [ { "id": "614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:614" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:848", "name": "arthritis", "description": "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint.", "url": "https://disease-ontology.org/term/DOID:848", "evidence": [ { "id": "848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:848" } ], "weight": 0.0 }, { "disease_id": "DOID: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:8924", "name": "autoimmune thrombocytopenic purpura", "description": "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.", "url": "https://disease-ontology.org/term/DOID:8924", "evidence": [ { "id": "8924", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8924" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GPI anchor binding", "id": "GO:0034235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034235", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgE receptor activity", "id": "GO:0019767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019767", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgE binding", "id": "GO:0019863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019863", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgG binding", "id": "GO:0019864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019864", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "IgG receptor activity", "id": "GO:0019770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019770", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "low-affinity IgG receptor activity", "id": "GO:0019772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019772", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "immune receptor activity", "id": "GO:0140375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140375", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" } ], "biological_process": [ { "name": "dendritic cell antigen processing and presentation", "id": "GO:0002468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002468", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "positive regulation of bone resorption", "id": "GO:0045780", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045780", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "neutrophil activation", "id": "GO:0042119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042119", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "natural killer cell degranulation", "id": "GO:0043320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043320", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "antibody-dependent cellular cytotoxicity", "id": "GO:0001788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001788", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "Fc receptor-mediated immune complex endocytosis", "id": "GO:0160006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160006", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4J1G0", "url": "https://www.uniprot.org/uniprotkb/A0A0B4J1G0" } ], "pmid": "" }, { "name": "external side of 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"evidence": [ { "database": "UniProtKB", "id": "P26151", "url": "https://www.uniprot.org/uniprotkb/P26151" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 404, "chemical_mass": 44888.0, "gene_names": "Fcgr1;CD64;Fcg1;FcgammaRI;Fcgr1;IGGHAFC", "protein_name": "High affinity immunoglobulin gamma Fc receptor I", "disease": [ { "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: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": 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"url": "https://www.uniprot.org/uniprotkb/P17439" } ], "pmid": "" }, { "name": "response to pH", "id": "GO:0009268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009268", "evidence": [ { "database": "UniProtKB", "id": "P17439", "url": "https://www.uniprot.org/uniprotkb/P17439" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "P17439", "url": "https://www.uniprot.org/uniprotkb/P17439" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P17439", "url": "https://www.uniprot.org/uniprotkb/P17439" } ], "pmid": "" }, { "name": "response to thyroid hormone", "id": "GO:0097066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097066", "evidence": [ { "database": "UniProtKB", "id": "P17439", "url": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388672989" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Glu377", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570163", "evidence": [ { "id": "rs3388668991", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668991" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Gly381", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570152", "evidence": [ { "id": "rs3388668946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668946" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "385", "end_pos": "385", "site_lbl": "Val385", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570140", "evidence": [ { "id": "rs28327684", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28327684" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Ser38", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578235", "evidence": [ { "id": "rs3388678244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678244" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "391", "end_pos": "391", "site_lbl": "Pro391", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43570122", "evidence": [ { "id": "rs3388683571", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683571" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "424", "end_pos": "424", "site_lbl": "Phe424", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569942", "evidence": [ { "id": "rs3388674547", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388674547" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "469", "end_pos": "469", "site_lbl": "Ser469", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569638", "evidence": [ { "id": "rs3388681957", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681957" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "481", "end_pos": "481", "site_lbl": "Gly481", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569603", "evidence": [ { "id": "rs3388668954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668954" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "485", "end_pos": "485", "site_lbl": "Trp485", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569590", "evidence": [ { "id": "rs3388681116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681116" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Asp491", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569573", "evidence": [ { "id": "rs3394232499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394232499" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Leu497", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569555", "evidence": [ { "id": "rs3388681053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681053" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "498", "end_pos": "498", "site_lbl": "Gly498", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569551", "evidence": [ { "id": "rs3393897082", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393897082" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "501", "end_pos": "501", "site_lbl": "Met501", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569543", "evidence": [ { "id": "rs3394176084", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394176084" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "514", "end_pos": "514", "site_lbl": "Phe514", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569502", "evidence": [ { "id": "rs3388680670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388680670" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "539", "end_pos": "539", "site_lbl": "Val539", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43569226", "evidence": [ { "id": "rs28327690", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs28327690" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Glu54", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578188", "evidence": [ { "id": "rs3388683632", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388683632" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Arg565", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568961", "evidence": [ { "id": "rs3388678391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388678391" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "573", "end_pos": "573", "site_lbl": "Val573", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568936", "evidence": [ { "id": "rs3388673031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388673031" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "577", "end_pos": "577", "site_lbl": "Lys577", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568924", "evidence": [ { "id": "rs3388668406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668406" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "596", "end_pos": "596", "site_lbl": "Arg596", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568788", "evidence": [ { "id": "rs3393897136", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3393897136" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "614", "end_pos": "614", "site_lbl": "Lys614", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568734", "evidence": [ { "id": "rs3388684454", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684454" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Gln618", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568723", "evidence": [ { "id": "rs3388681034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681034" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Tyr667", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568473_43568474insAGGCTACGCAGACCAGACCTATGATGCATGGGTC", "evidence": [ { "id": "rs3394174974", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394174974" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "669", "end_pos": "669", "site_lbl": "Ala669", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568459", "evidence": [ { "id": "rs234636229", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs234636229" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Thr672", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568451", "evidence": [ { "id": "rs260239102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs260239102" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "686", "end_pos": "686", "site_lbl": "Ala686", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568310", "evidence": [ { "id": "rs3394297350", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394297350" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Val689", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568300", "evidence": [ { "id": "rs3394174965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394174965" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "695", "end_pos": "695", "site_lbl": "Val695", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568283", "evidence": [ { "id": "rs255716973", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255716973" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "716", "end_pos": "716", "site_lbl": "Ala716", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568219", "evidence": [ { "id": "rs3388681615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681615" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "719", "end_pos": "719", "site_lbl": "Arg719", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43568210", "evidence": [ { "id": "rs3388661198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661198" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "71", "end_pos": "71", "site_lbl": "Gln71", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578136", "evidence": [ { "id": "rs48573091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48573091" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "769", "end_pos": "769", "site_lbl": "Val769", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567898", "evidence": [ { "id": "rs3388668961", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668961" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "775", "end_pos": "775", "site_lbl": "Thr775", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567879", "evidence": [ { "id": "rs3388668399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668399" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "785", "end_pos": "785", "site_lbl": "Ala785", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567850", "evidence": [ { "id": "rs3388668981", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388668981" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "797", "end_pos": "797", "site_lbl": "Pro797", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567813", "evidence": [ { "id": "rs3413041954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413041954" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "80", "end_pos": "80", "site_lbl": "Cys80", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43578108", "evidence": [ { "id": "rs3388681937", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681937" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "830", "end_pos": "830", "site_lbl": "Trp830", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567456", "evidence": [ { "id": "rs3388681686", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388681686" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "858", "end_pos": "858", "site_lbl": "Cys858", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567374", "evidence": [ { "id": "rs3388684408", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388684408" } ] }, { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "4", "chr_pos": "43567373", "evidence": [ { "id": "rs3388661275", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388661275" } ] } ] }, { "uniprot_canonical_ac": "Q69ZF3-1", "start_pos": "875", "end_pos": "875", "site_lbl": "Trp875", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of 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"https://www.uniprot.org/uniprotkb/Q11127#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "218", "end_pos": "218", "site_lbl": "Asn218", "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": 218, "start_aa": "Asn", "end_pos": 218, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn218", "evidence": [ { "id": "Q11127", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q11127#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 3 filters: n-glyco-sequon-gain (SGC->NGC); n-glyco-sequon-loss (NIS->NIN); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662937", "evidence": [ { "id": "rs3389029797", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389029797" } ] }, { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-loss (NIS->NIG); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662938", "evidence": [ { "id": "rs3399815651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399815651" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Asp111", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DCS->NCS); glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662962", "evidence": [ { "id": "rs260569163", "database": "dbSNP", "url": 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"uniprot_canonical_ac": "Q11127-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Ala128", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662911", "evidence": [ { "id": "rs214921291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214921291" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Asp142", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662868", "evidence": [ { "id": "rs3389021882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389021882" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "152", "end_pos": "152", "site_lbl": "Pro152", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662838", "evidence": [ { "id": "rs3399815661", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399815661" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "155", "end_pos": "155", "site_lbl": "Gly155", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662829", "evidence": [ { "id": "rs265880265", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265880265" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "159", "end_pos": "159", "site_lbl": "Arg159", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662818", "evidence": [ { "id": "rs241540630", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241540630" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "164", "end_pos": "164", "site_lbl": "Leu164", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662803", "evidence": [ { "id": "rs3389030731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389030731" } ] }, { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662802", "evidence": [ { "id": "rs3507905936", "database": "dbSNP", "url": 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passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662776", "evidence": [ { "id": "rs237165056", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs237165056" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Thr179", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662758", "evidence": [ { "id": "rs222907644", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222907644" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Val229", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": 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"end_pos": "236", "site_lbl": "Leu236", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662586", "evidence": [ { "id": "rs3507905565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3507905565" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "238", "end_pos": "238", "site_lbl": "Ser238", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662581", "evidence": [ { "id": "rs231862020", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231862020" } ] }, { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662580", "evidence": [ { "id": "rs215198389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215198389" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Thr243", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662565", "evidence": [ { "id": "rs252460344", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252460344" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Leu253", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662536", "evidence": [ { "id": "rs8239694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs8239694" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "263", "end_pos": "263", "site_lbl": "Val263", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662505", "evidence": [ { "id": "rs3388999390", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999390" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Gln271", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662480", "evidence": [ { "id": "rs247306909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247306909" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Val27", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14663213", "evidence": [ { "id": "rs265262505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265262505" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "283", "end_pos": "283", "site_lbl": "His283", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662445", "evidence": [ { "id": "rs223513294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223513294" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Gly293", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662416", "evidence": [ { "id": "rs1131773195", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131773195" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "301", "end_pos": "301", "site_lbl": "Ile301", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "9", "chr_pos": "14662392", "evidence": [ { "id": "rs3388999417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388999417" } ] } ] }, { "uniprot_canonical_ac": "Q11127-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Glu317", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline 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"N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 97, "start_aa": "Asn", "end_pos": 97, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn97", "evidence": [ { "id": "Q8BHN3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q8BHN3#ptm_processing" }, { "id": "5HJO", "database": "PDB", "url": "https://www.rcsb.org/sequence/5HJO" }, { "id": "5F0E", "database": "PDB", "url": "https://www.rcsb.org/sequence/5F0E" }, { "id": "5IEE", "database": "PDB", "url": "https://www.rcsb.org/sequence/5IEE" }, { "id": "5IEG", "database": "PDB", "url": "https://www.rcsb.org/sequence/5IEG" }, { "id": "5IEF", "database": "PDB", "url": "https://www.rcsb.org/sequence/5IEF" }, { "id": "5IED", "database": "PDB", "url": "https://www.rcsb.org/sequence/5IED" }, { "id": "5HJR", "database": "PDB", "url": 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"uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Gly274", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8886802", "evidence": [ { "id": "rs3389529303", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389529303" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "282", "end_pos": "282", "site_lbl": "Leu282", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "19", "chr_pos": "8886825", "evidence": [ { "id": "rs3389520016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389520016" } ] } ] }, { "uniprot_canonical_ac": "Q8BHN3-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Tyr287", 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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:4001", "name": "ovarian carcinoma", "description": "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:4001", "evidence": [ { "id": "4001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4001" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "sex determination", "id": "GO:0007530", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007530", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "negative regulation of ovarian follicle development", "id": "GO:2000355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000355", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "Mullerian duct regression", "id": "GO:0001880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001880", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "Leydig cell differentiation", "id": "GO:0033327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033327", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "gonadal mesoderm development", "id": "GO:0007506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007506", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "preantral ovarian follicle growth", "id": "GO:0001546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001546", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "anti-Mullerian hormone receptor signaling pathway", "id": "GO:1990262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990262", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "gonad development", "id": "GO:0008406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008406", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "development of primary male sexual characteristics", "id": "GO:0046546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046546", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor binding", "id": "GO:0005160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005160", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" }, { "name": "type II transforming growth factor beta receptor binding", "id": "GO:0005114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005114", "evidence": [ { "database": "UniProtKB", "id": "P27106", "url": "https://www.uniprot.org/uniprotkb/P27106" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 244, "chemical_mass": 25957.0, "gene_names": "Mbl2;L-MBP;MBL-C;MBL;MBP-C;Mbl2;RARF/P28A", "protein_name": "Mannose-binding protein C", "disease": [ { "disease_id": "DOID:0050073", "name": "invasive aspergillosis", "description": "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.", "url": "https://disease-ontology.org/term/DOID:0050073", "evidence": [ { "id": "0050073", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050073" } ], "weight": 0.0 }, { "disease_id": "DOID:0050117", "name": "disease by infectious agent", "description": "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions.", "url": "https://disease-ontology.org/term/DOID:0050117", "evidence": [ { "id": "0050117", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050117" } ], "weight": 0.0 }, { "disease_id": "DOID:0050144", "name": "Kartagener syndrome", "description": "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.", "url": "https://disease-ontology.org/term/DOID:0050144", "evidence": [ { "id": "0050144", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050144" } ], "weight": 0.0 }, { "disease_id": "DOID:0050697", "name": "chorioamnionitis", "description": "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection.", "url": "https://disease-ontology.org/term/DOID:0050697", "evidence": [ { "id": "0050697", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050697" } ], "weight": 0.0 }, { "disease_id": "DOID:0060496", "name": "respiratory allergy", "description": "An allergic disease that is located_in the respiratory tract.", "url": "https://disease-ontology.org/term/DOID:0060496", "evidence": [ { "id": "0060496", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060496" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:104", "name": "bacterial infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.", "url": "https://disease-ontology.org/term/DOID:104", "evidence": [ { "id": "104", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:104" } ], "weight": 0.0 }, { "disease_id": "DOID:10457", "name": "Legionnaires' disease", "description": "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.", "url": "https://disease-ontology.org/term/DOID:10457", "evidence": [ { "id": "10457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10457" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": "https://disease-ontology.org/term/DOID:10754", "evidence": [ { "id": "10754", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10754" } ], "weight": 0.0 }, { "disease_id": "DOID:10887", "name": "lepromatous leprosy", "description": "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.", "url": "https://disease-ontology.org/term/DOID:10887", "evidence": [ { "id": "10887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10887" } ], "weight": 0.0 }, { "disease_id": "DOID:11162", "name": "respiratory failure", "description": "A lung disease characterized by inadequate gas exchange by the respiratory system.", "url": "https://disease-ontology.org/term/DOID:11162", "evidence": [ { "id": "11162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11162" } ], "weight": 0.0 }, { "disease_id": "DOID:11394", "name": "adult respiratory distress syndrome", "description": "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia.", "url": "https://disease-ontology.org/term/DOID:11394", "evidence": [ { "id": "11394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11394" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:12177", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that results in insufficient production of antibodies needed to respond to exposure of pathogens.", "url": "https://disease-ontology.org/term/DOID:12177", "evidence": [ { "id": "12177", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12177" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:12375", "name": "bronchopneumonia", "description": "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.", "url": "https://disease-ontology.org/term/DOID:12375", "evidence": [ { "id": "12375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12375" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12716", "name": "newborn respiratory distress syndrome", "description": "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts.", "url": "https://disease-ontology.org/term/DOID:12716", "evidence": [ { "id": "12716", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12716" } ], "weight": 0.0 }, { "disease_id": "DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:13375", "name": "temporal arteritis", "description": "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head.", "url": "https://disease-ontology.org/term/DOID:13375", "evidence": [ { "id": "13375", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13375" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13450", "name": "coccidioidomycosis", "description": "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules.", "url": "https://disease-ontology.org/term/DOID:13450", "evidence": [ { "id": "13450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13450" } ], "weight": 0.0 }, { "disease_id": "DOID:14067", "name": "Plasmodium falciparum malaria", "description": "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever.", "url": "https://disease-ontology.org/term/DOID:14067", "evidence": [ { "id": "14067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14067" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1564", "name": "fungal infectious disease", "description": "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body.", "url": "https://disease-ontology.org/term/DOID:1564", "evidence": [ { "id": "1564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1564" } ], "weight": 0.0 }, { "disease_id": "DOID:1588", "name": "thrombocytopenia", "description": "A blood platelet disease that is characterized by low a platelet count in the blood.", "url": "https://disease-ontology.org/term/DOID:1588", "evidence": [ { "id": "1588", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1588" } ], "weight": 0.0 }, { "disease_id": "DOID:1733", "name": "cryptosporidiosis", "description": "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.", "url": "https://disease-ontology.org/term/DOID:1733", "evidence": [ { "id": "1733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1733" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "weight": 0.0 }, { "disease_id": "DOID:2272", "name": "vulvovaginal candidiasis", "description": "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge.", "url": "https://disease-ontology.org/term/DOID:2272", "evidence": [ { "id": "2272", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2272" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "weight": 0.0 }, { "disease_id": "DOID:3385", "name": "bacterial vaginosis", "description": "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis.", "url": "https://disease-ontology.org/term/DOID:3385", "evidence": [ { "id": "3385", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3385" } ], "weight": 0.0 }, { "disease_id": "DOID:341", "name": "peripheral vascular disease", "description": "A vascular disease that is characterized by obstruction of vessels not within the coronary, aortic arch vasculature, or brain.", "url": "https://disease-ontology.org/term/DOID:341", "evidence": [ { "id": "341", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:341" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4247", "name": "coronary restenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4247", "evidence": [ { "id": "4247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4247" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:57", "name": "aortic valve insufficiency", "description": "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle.", "url": "https://disease-ontology.org/term/DOID:57", "evidence": [ { "id": "57", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:57" } ], "weight": 0.0 }, { "disease_id": "DOID:594", "name": "panic disorder", "description": "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.", "url": "https://disease-ontology.org/term/DOID:594", "evidence": [ { "id": "594", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:594" } ], "weight": 0.0 }, { "disease_id": "DOID:676", "name": "systemic juvenile rheumatoid arthritis", "description": "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint.", "url": "https://disease-ontology.org/term/DOID:676", "evidence": [ { "id": "676", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:676" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7188", "name": "autoimmune thyroiditis", "description": "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues.", "url": "https://disease-ontology.org/term/DOID:7188", "evidence": [ { "id": "7188", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7188" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:853", "name": "polymyalgia rheumatica", "description": "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck.", "url": "https://disease-ontology.org/term/DOID:853", "evidence": [ { "id": "853", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:853" } ], "weight": 0.0 }, { "disease_id": "DOID:8566", "name": "herpes simplex", "description": "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2), which are transmitted_by direct contact with an active lesion or body fluid of an infected person.", "url": "https://disease-ontology.org/term/DOID:8566", "evidence": [ { "id": "8566", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8566" } ], "weight": 0.0 }, { "disease_id": "DOID:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9146", "name": "visceral leishmaniasis", "description": "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver.", "url": "https://disease-ontology.org/term/DOID:9146", "evidence": [ { "id": "9146", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9146" } ], "weight": 0.0 }, { "disease_id": "DOID:9182", "name": "pemphigus", "description": "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured.", "url": "https://disease-ontology.org/term/DOID:9182", "evidence": [ { "id": "9182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9182" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "calcium-dependent protein binding", "id": "GO:0048306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048306", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "phosphatidylinositol-4-phosphate binding", "id": "GO:0070273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070273", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "galactose binding", "id": "GO:0005534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005534", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "multivesicular body", "id": "GO:0005771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005771", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "serine-type endopeptidase complex", "id": "GO:1905370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905370", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "symbiont cell surface", "id": "GO:0106139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106139", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "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": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of protein processing", "id": "GO:0010954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010954", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "negative regulation of viral process", "id": "GO:0048525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048525", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "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": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "protein maturation", "id": "GO:0051604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051604", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "complement activation, lectin pathway", "id": "GO:0001867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001867", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "zymogen activation", "id": "GO:0031638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031638", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "killing by host of symbiont cells", "id": "GO:0051873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051873", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of complement activation", "id": "GO:0045917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045917", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "complement activation, classical pathway", "id": "GO:0006958", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006958", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "complement activation", "id": "GO:0006956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006956", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "positive regulation of opsonization", "id": "GO:1903028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903028", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "opsonization", "id": "GO:0008228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008228", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "cell surface pattern recognition receptor signaling pathway", "id": "GO:0002752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002752", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" }, { "name": "activation of membrane attack complex", "id": "GO:0001905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001905", "evidence": [ { "database": "UniProtKB", "id": "P41317", "url": "https://www.uniprot.org/uniprotkb/P41317" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P41317-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Asn210", "weight": 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], "biological_process": [ { "name": "organ induction", "id": "GO:0001759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001759", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "mesodermal cell fate specification", "id": "GO:0007501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007501", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "positive regulation of cell development", "id": "GO:0010720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010720", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "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": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "single fertilization", "id": "GO:0007338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007338", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "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": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "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": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "embryonic skeletal joint morphogenesis", "id": "GO:0060272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060272", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "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": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "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": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "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": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "protein-DNA complex", "id": "GO:0032993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032993", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P31311", "url": "https://www.uniprot.org/uniprotkb/P31311" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q8C886-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 610, "chemical_mass": 66826.0, "gene_names": "Plekhn1;Clpabp;Plekhn1", "protein_name": "Probable pleckstrin homology domain-containing family N member 1", "disease": [], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "phosphatidylinositol phosphate binding", "id": "GO:1901981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901981", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "phosphatidic acid binding", "id": "GO:0070300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070300", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" }, { "name": "cardiolipin binding", "id": "GO:1901612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901612", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8C886-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Thr150", "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": 150, "start_aa": "Thr", "end_pos": 150, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr150", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->I).", "chr_id": "4", "chr_pos": "156309687", "evidence": [ { "id": "rs251506002", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251506002" } ] } ] }, { "uniprot_canonical_ac": "Q8C886-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Tyr307", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ] } ] }, { "uniprot_canonical_ac": "Q8C886-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Tyr462", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8C886", "url": "https://www.uniprot.org/uniprotkb/Q8C886" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "A2ARU5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2ARU5", "url": "https://www.uniprot.org/uniprotkb/A2ARU5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 834, "chemical_mass": 95461.0, "gene_names": "Zscan29;Zfp690;Zscan29", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2ARU5", "url": "https://www.uniprot.org/uniprotkb/A2ARU5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A2ARU5", "url": "https://www.uniprot.org/uniprotkb/A2ARU5" } ], "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": "A2ARU5", "url": "https://www.uniprot.org/uniprotkb/A2ARU5" } ], "pmid": "" }, { "name": 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"database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388490964" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "112", "end_pos": "112", "site_lbl": "Val112", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105584400", "evidence": [ { "id": "rs3388493610", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493610" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Leu126", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105583724", "evidence": [ { "id": "rs3388491460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388491460" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Phe127", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105583720", "evidence": [ { "id": "rs3388494441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494441" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Thr133", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105583703", "evidence": [ { "id": "rs3388492559", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388492559" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Ser138", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105583688", "evidence": [ { "id": "rs3388492352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388492352" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Phe145", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105583667", "evidence": [ { "id": "rs3388493242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493242" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "216", "end_pos": "216", "site_lbl": "Asn216", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105577035", "evidence": [ { "id": "rs3388491492", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388491492" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "267", "end_pos": "267", "site_lbl": "Asp267", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105575838", "evidence": [ { "id": "rs33166201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs33166201" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Gly274", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105574525", "evidence": [ { "id": "rs3388491752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388491752" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Pro27", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105585469", "evidence": [ { "id": "rs3388494447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494447" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Gly287", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105574485", "evidence": [ { "id": "rs3388494399", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388494399" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "320", "end_pos": "320", "site_lbl": "Asn320", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105572208", "evidence": [ { "id": "rs3388490261", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388490261" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "413", "end_pos": "413", "site_lbl": "Lys413", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis 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"id": "rs232519348", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232519348" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "491", "end_pos": "491", "site_lbl": "Thr491", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105519450", "evidence": [ { "id": "rs3539574387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539574387" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Cys497", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105519431", "evidence": [ { "id": "rs33166186", "database": "dbSNP", "url": 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] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "648", "end_pos": "648", "site_lbl": "Gly648", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105512739", "evidence": [ { "id": "rs228706873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228706873" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ala698", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105493960", "evidence": [ { "id": "rs246911742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246911742" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Gln745", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105485761", "evidence": [ { "id": "rs225897193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs225897193" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "748", "end_pos": "748", "site_lbl": "Gln748", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105485752", "evidence": [ { "id": "rs3388490336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388490336" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "765", "end_pos": "765", "site_lbl": "Ile765", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105485265", "evidence": [ { "id": "rs3539564873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539564873" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "770", "end_pos": "770", "site_lbl": "Asp770", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105485250", "evidence": [ { "id": "rs220463403", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs220463403" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "780", "end_pos": "780", "site_lbl": "Cys780", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "Y", "comment": "Germline mutation 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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388490164" } ] } ] }, { "uniprot_canonical_ac": "Q9R1S3-1", "start_pos": "98", "end_pos": "98", "site_lbl": "His98", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "1", "chr_pos": "105584441", "evidence": [ { "id": "rs3388490210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388490210" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q91ZV7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZV7", "url": "https://www.uniprot.org/uniprotkb/Q91ZV7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 500, "chemical_mass": 55635.0, "gene_names": "Plxdc1;2410003I07Rik;Plxdc1;Tem7", "protein_name": 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"end_pos": "1010", "site_lbl": "Val1010", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774185", "evidence": [ { "id": "rs3389011795", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389011795" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1011", "end_pos": "1011", "site_lbl": "Gly1011", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774183", "evidence": [ { "id": "rs3388984412", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984412" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1025", "end_pos": "1025", "site_lbl": "Pro1025", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774140", "evidence": [ { "id": "rs259746867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259746867" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1026", "end_pos": "1026", "site_lbl": "Met1026", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774136", "evidence": [ { "id": "rs228542238", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228542238" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1030", "end_pos": "1030", "site_lbl": "Ser1030", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774125", "evidence": [ { "id": "rs3389020464", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020464" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1032", "end_pos": "1032", "site_lbl": "Gln1032", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774119", "evidence": [ { "id": "rs3389008752", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389008752" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1146", "end_pos": "1146", "site_lbl": "Ser1146", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117770014", "evidence": [ { "id": "rs3389017039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017039" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ala119", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808168", "evidence": [ { "id": "rs253288398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253288398" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1232", "end_pos": "1232", "site_lbl": "Ala1232", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117768954", "evidence": [ { "id": "rs241598224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241598224" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808149", "evidence": [ { "id": "rs236023388", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236023388" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "12", "end_pos": "12", "site_lbl": "Ser12", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117809153", "evidence": [ { "id": "rs3389020422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020422" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1347", "end_pos": "1347", "site_lbl": "Val1347", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117764855", "evidence": [ { "id": "rs3388984401", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984401" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "134", "end_pos": "134", "site_lbl": "Ser134", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808123", "evidence": [ { "id": "rs3389020409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020409" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1350", "end_pos": "1350", "site_lbl": "Thr1350", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117764845", "evidence": [ { "id": "rs3389007909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007909" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1380", "end_pos": "1380", "site_lbl": "Val1380", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117762635", "evidence": [ { "id": "rs3389020393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020393" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1402", "end_pos": "1402", "site_lbl": "Arg1402", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117762568", "evidence": [ { "id": "rs3389020400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389020400" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "150", "end_pos": "150", "site_lbl": "Val150", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808075", "evidence": [ { "id": "rs36666765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36666765" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "166", "end_pos": "166", "site_lbl": "Ala166", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807541", "evidence": [ { "id": "rs36354942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36354942" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1707", "end_pos": "1707", "site_lbl": "Glu1707", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117755075_117755076insAACCA", "evidence": [ { "id": "rs3388989811", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989811" } ] }, { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117755074", "evidence": [ { "id": "rs3388989808", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989808" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1748", "end_pos": "1748", "site_lbl": "Arg1748", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117750765", "evidence": [ { "id": "rs1133418349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133418349" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1773", "end_pos": "1773", "site_lbl": "His1773", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117750688", "evidence": [ { "id": "rs3546963685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546963685" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Trp1816", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117748720", "evidence": [ { "id": "rs3389013505", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013505" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Phe182", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807493", "evidence": [ { "id": "rs3389015672", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015672" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "185", "end_pos": "185", "site_lbl": "His185", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807483", "evidence": [ { "id": "rs253005172", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253005172" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "192", "end_pos": "192", "site_lbl": "Thr192", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807462", "evidence": [ { "id": "rs3389013458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013458" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "193", "end_pos": "193", "site_lbl": "Arg193", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117807459", "evidence": [ { "id": "rs213760371", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs213760371" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2260", "end_pos": "2260", "site_lbl": "Glu2260", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726722", "evidence": [ { "id": "rs254405392", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs254405392" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2271", "end_pos": "2271", "site_lbl": "Asp2271", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726689", "evidence": [ { "id": "rs3389012236", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012236" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "227", "end_pos": "227", "site_lbl": "Ala227", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117802941", "evidence": [ { "id": "rs226173155", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226173155" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2301", "end_pos": "2301", "site_lbl": "Met2301", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726600", "evidence": [ { "id": "rs251976713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs251976713" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2319", "end_pos": "2319", "site_lbl": "Val2319", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726547", "evidence": [ { "id": "rs259606939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259606939" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2320", "end_pos": "2320", "site_lbl": "Ile2320", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117726544", "evidence": [ { "id": "rs240095232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240095232" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2336", "end_pos": "2336", "site_lbl": "Gly2336", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117724900", "evidence": [ { "id": "rs3388995377", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995377" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2401", "end_pos": "2401", "site_lbl": "Ser2401", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117724297", "evidence": [ { "id": "rs232462324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232462324" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "240", "end_pos": "240", "site_lbl": "Arg240", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117802901", "evidence": [ { "id": "rs3389015460", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015460" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "241", "end_pos": "241", "site_lbl": "Gly241", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117802898", "evidence": [ { "id": "rs261846047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs261846047" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2447", "end_pos": "2447", "site_lbl": "Pro2447", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117722465", "evidence": [ { "id": "rs253481801", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs253481801" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "2460", "end_pos": "2460", "site_lbl": "Arg2460", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117722425", "evidence": [ { "id": "rs36475739", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36475739" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "256", "end_pos": "256", "site_lbl": "Leu256", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117799322", "evidence": [ { "id": "rs3388984416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984416" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Gly261", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117799308", "evidence": [ { "id": "rs238969327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238969327" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "293", "end_pos": "293", "site_lbl": "Tyr293", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117799212", "evidence": [ { "id": "rs3389012249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012249" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "339", "end_pos": "339", "site_lbl": "Cys339", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794943", "evidence": [ { "id": "rs222684790", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs222684790" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Gly349", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794912", "evidence": [ { "id": "rs238206667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238206667" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Thr351", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794907", "evidence": [ { "id": "rs217787667", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs217787667" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Val372", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117794844", "evidence": [ { "id": "rs3546918224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546918224" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "381", "end_pos": "381", "site_lbl": "Gly381", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792650", "evidence": [ { "id": "rs3389017005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017005" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Ala382", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792646", "evidence": [ { "id": "rs238150565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs238150565" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "40", "end_pos": "40", "site_lbl": "Phe40", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117809071", "evidence": [ { "id": "rs247092046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs247092046" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Pro42", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117809064", "evidence": [ { "id": "rs228006879", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228006879" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Ser458", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792419", "evidence": [ { "id": "rs221821319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs221821319" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "464", "end_pos": "464", "site_lbl": "Val464", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792401", "evidence": [ { "id": "rs3389007871", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007871" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Gly467", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792391", "evidence": [ { "id": "rs3388964326", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964326" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "487", "end_pos": "487", "site_lbl": "Glu487", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117792332", "evidence": [ { "id": "rs214709262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs214709262" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Val523", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790852", "evidence": [ { "id": "rs3398739258", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3398739258" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Val525", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790846", "evidence": [ { "id": "rs3389015740", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389015740" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "544", "end_pos": "544", "site_lbl": "Ser544", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790022", "evidence": [ { "id": "rs241689231", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs241689231" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Leu550", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117790003", "evidence": [ { "id": "rs224978310", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224978310" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "562", "end_pos": "562", "site_lbl": "Lys562", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787358", "evidence": [ { "id": "rs229263291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229263291" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "563", "end_pos": "563", "site_lbl": "Gln563", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787353", "evidence": [ { "id": "rs3388964270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964270" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "565", "end_pos": "565", "site_lbl": "Met565", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787348", "evidence": [ { "id": "rs264214367", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs264214367" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "584", "end_pos": "584", "site_lbl": "Gly584", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787292", "evidence": [ { "id": "rs3389017081", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017081" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "595", "end_pos": "595", "site_lbl": "His595", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117787258", "evidence": [ { "id": "rs3388984414", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388984414" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "606", "end_pos": "606", "site_lbl": "Asn606", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786388", "evidence": [ { "id": "rs3388995302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995302" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Val609", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786379", "evidence": [ { "id": "rs3389007910", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007910" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "632", "end_pos": "632", "site_lbl": "Asn632", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786308", "evidence": [ { "id": "rs3388989827", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989827" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Val635", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117786301", "evidence": [ { "id": "rs3389013501", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013501" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Glu670", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784268", "evidence": [ { "id": "rs250225613", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250225613" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "674", "end_pos": "674", "site_lbl": "Arg674", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784256", "evidence": [ { "id": "rs36920640", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36920640" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "678", "end_pos": "678", "site_lbl": "Ala678", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784243", "evidence": [ { "id": "rs236412728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs236412728" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784199", "evidence": [ { "id": "rs36282193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36282193" } ] }, { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784199", "evidence": [ { "id": "rs36282193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36282193" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "698", "end_pos": "698", "site_lbl": "Ser698", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784184", "evidence": [ { "id": "rs233660675", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233660675" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "705", "end_pos": "705", "site_lbl": "Val705", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117784162", "evidence": [ { "id": "rs38600027", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs38600027" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Arg717", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117783169", "evidence": [ { "id": "rs245173246", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245173246" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "745", "end_pos": "745", "site_lbl": "Thr745", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117783085", "evidence": [ { "id": "rs3389013516", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389013516" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "768", "end_pos": "768", "site_lbl": "Met768", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117781742", "evidence": [ { "id": "rs37339564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37339564" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "801", "end_pos": "801", "site_lbl": "Ala801", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117781643", "evidence": [ { "id": "rs37207410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37207410" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "802", "end_pos": "802", "site_lbl": "Thr802", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117781640", "evidence": [ { "id": "rs3546937825", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546937825" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "816", "end_pos": "816", "site_lbl": "Phe816", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778524", "evidence": [ { "id": "rs36432398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36432398" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "817", "end_pos": "817", "site_lbl": "Cys817", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778521", "evidence": [ { "id": "rs1134377302", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134377302" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "838", "end_pos": "838", "site_lbl": "Asp838", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778457", "evidence": [ { "id": "rs3389017091", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017091" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Trp83", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808942", "evidence": [ { "id": "rs3388964292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388964292" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Val845", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778438", "evidence": [ { "id": "rs3389012198", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012198" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "855", "end_pos": "855", "site_lbl": "Ile855", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117778407", "evidence": [ { "id": "rs230331431", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230331431" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "87", "end_pos": "87", "site_lbl": "Leu87", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808930", "evidence": [ { "id": "rs3389017085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389017085" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "887", "end_pos": "887", "site_lbl": "Ala887", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777891", "evidence": [ { "id": "rs3389019841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389019841" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "890", "end_pos": "890", "site_lbl": "Gln890", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777880", "evidence": [ { "id": "rs36876722", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36876722" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "891", "end_pos": "891", "site_lbl": "Glu891", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777879", "evidence": [ { "id": "rs232164765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs232164765" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "899", "end_pos": "899", "site_lbl": "Leu899", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777855", "evidence": [ { "id": "rs246232493", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246232493" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "91", "end_pos": "91", "site_lbl": "Ser91", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117808917", "evidence": [ { "id": "rs37923437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs37923437" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "921", "end_pos": "921", "site_lbl": "Gly921", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117777788", "evidence": [ { "id": "rs249923291", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249923291" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "929", "end_pos": "929", "site_lbl": "Arg929", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776772", "evidence": [ { "id": "rs3399366887", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399366887" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "931", "end_pos": "931", "site_lbl": "Leu931", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776767", "evidence": [ { "id": "rs3399654604", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399654604" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776768", "evidence": [ { "id": "rs240222227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs240222227" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "932", "end_pos": "932", "site_lbl": "Met932", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776764", "evidence": [ { "id": "rs3399159271", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399159271" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "938", "end_pos": "938", "site_lbl": "Val938", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776746", "evidence": [ { "id": "rs36985151", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36985151" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "950", "end_pos": "950", "site_lbl": "Gln950", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776710", "evidence": [ { "id": "rs230200917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs230200917" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "961", "end_pos": "961", "site_lbl": "Gln961", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776676", "evidence": [ { "id": "rs36495159", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs36495159" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "962", "end_pos": "962", "site_lbl": "Arg962", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776674", "evidence": [ { "id": "rs226136461", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226136461" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "969", "end_pos": "969", "site_lbl": "Ala969", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117776653", "evidence": [ { "id": "rs257416565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs257416565" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "974", "end_pos": "974", "site_lbl": "Ala974", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774294", "evidence": [ { "id": "rs223683882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223683882" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "976", "end_pos": "976", "site_lbl": "Cys976", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774288", "evidence": [ { "id": "rs228480522", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs228480522" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "982", "end_pos": "982", "site_lbl": "Thr982", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774270", "evidence": [ { "id": "rs250525294", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs250525294" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Ala988", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774251", "evidence": [ { "id": "rs3399570742", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399570742" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "991", "end_pos": "991", "site_lbl": "Lys991", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774243", "evidence": [ { "id": "rs3399758860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399758860" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "995", "end_pos": "995", "site_lbl": "Glu995", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774229", "evidence": [ { "id": "rs3399638359", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399638359" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "996", "end_pos": "996", "site_lbl": "Asp996", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774227", "evidence": [ { "id": "rs3399638389", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399638389" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", "chr_pos": "117774228", "evidence": [ { "id": "rs3399179860", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399179860" } ] } ] }, { "uniprot_canonical_ac": "Q7TN88-1", "start_pos": "999", "end_pos": "999", "site_lbl": "Arg999", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/c-type/polycystin.", "chr_id": "8", 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"https://www.uniprot.org/uniprotkb/P02816" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9CZB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 233, "chemical_mass": 27205.0, "gene_names": "Med7;1110063B05Rik;Crsp33;Crsp9;Med7", "protein_name": "Mediator of RNA polymerase II transcription subunit 7", "disease": [], "biological_process": [ { "name": "positive regulation of transcription initiation by RNA polymerase II", "id": "GO:0060261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060261", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase 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polymerase II preinitiation complex assembly", "id": "GO:0051123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051123", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "transcription regulator complex", "id": "GO:0005667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005667", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "mediator complex", "id": "GO:0016592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016592", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "core mediator complex", "id": "GO:0070847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070847", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "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": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" }, { "name": "transcription coregulator activity", "id": "GO:0003712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003712", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9CZB6-1", "start_pos": "195", "end_pos": "195", "site_lbl": "Ser195", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9CZB6", "url": "https://www.uniprot.org/uniprotkb/Q9CZB6" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q9CZB6", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9CZB6" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q8VCX5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 477, "chemical_mass": 54353.0, "gene_names": "Micu1;C730016L05Rik;Calc;Cbara1;Micu1", "protein_name": "Calcium uptake protein 1, mitochondrial", "disease": [ { "disease_id": "DOID:0111335", "name": "myopathy with extrapyramidal signs", "description": "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1.", "url": "https://disease-ontology.org/term/DOID:0111335", "evidence": [ { "id": "0111335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111335" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial intermembrane space", "id": "GO:0005758", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005758", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "uniplex complex", "id": "GO:1990246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990246", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial crista junction", "id": "GO:0044284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044284", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium channel regulator activity", "id": "GO:0005246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005246", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium channel inhibitor activity", "id": "GO:0019855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019855", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium ion sensor activity", "id": "GO:0061891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061891", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "cellular response to calcium ion", "id": "GO:0071277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071277", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial calcium ion transmembrane transport", "id": "GO:0006851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006851", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium import into the mitochondrion", "id": "GO:0036444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036444", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "mitochondrial calcium ion homeostasis", "id": "GO:0051560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051560", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "positive regulation of cristae formation", "id": "GO:1903852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903852", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial calcium ion concentration", "id": "GO:0051561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051561", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "regulation of cellular hyperosmotic salinity response", "id": "GO:1900069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900069", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" }, { "name": "cellular response to calcium ion starvation", "id": "GO:0072732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072732", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Ser124", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Abolished phosphorylation by AKT1; leading to increased stability.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "30504268", "url": "https://glygen.org/publication/PubMed/30504268" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Mimics phosphorylation; leading to decreased stability.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "30504268", "url": "https://glygen.org/publication/PubMed/30504268" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "203", "end_pos": "203", "site_lbl": "Cys203", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "233", "end_pos": "233", "site_lbl": "Asp233", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-244; A-423 and A-434. Does not affect ability to regulate cristae organization; when associated with A-244; A-423 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "37098122", "url": "https://glygen.org/publication/PubMed/37098122" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "237", "end_pos": "237", "site_lbl": "Asp237", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with K-248, A-427 and K-438.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "244", "end_pos": "244", "site_lbl": "Glu244", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-233; A-423 and A-434. Does not affect ability to regulate cristae organization; when associated with A-233; A-423 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Val248", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "K", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with A-237, A-248 and K-438.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "277", "end_pos": "277", "site_lbl": "Cys277", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Asp423", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-233; A-244 and A-434. Does not affect ability to regulate cristae organization; when associated with A-233; A-244 and A-434.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "427", "end_pos": "427", "site_lbl": "Asn427", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with A-237, K-248 and K-438.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Glu434", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Acts as a dominant negative mutant that reduces the mitochondrial Ca(2+) peaks; when associated with A-233; A-244 and A-423. Does not affect ability to regulate cristae organization; A-233; A-244 and A-423.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ile438", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Abolished calcium-binding, leading to a dominant-negative mutant that reduces mitochondrial calcium uptake; when associated with A-237, K-248 and A-427.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "465", "end_pos": "465", "site_lbl": "Cys465", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Abolishes interaction with MICU2.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" } ] } ] }, { "uniprot_canonical_ac": "Q8VCX5-1", "start_pos": "62", "end_pos": "62", "site_lbl": "Cys62", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No effect.", "evidence": [ { "database": "UniProtKB", "id": "Q8VCX5", "url": "https://www.uniprot.org/uniprotkb/Q8VCX5" }, { "database": "PubMed", "id": "24560927", "url": "https://glygen.org/publication/PubMed/24560927" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q922V4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 513, "chemical_mass": 56938.0, "gene_names": "Plrg1;Plrg1;Tango4", "protein_name": "Pleiotropic regulator 1", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "nuclear speck", "id": "GO:0016607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016607", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "nuclear membrane", "id": "GO:0031965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031965", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "fibrillar center", "id": "GO:0001650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001650", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "spliceosomal complex", "id": "GO:0005681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005681", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "catalytic step 2 spliceosome", "id": "GO:0071013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071013", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "post-mRNA release spliceosomal complex", "id": "GO:0071014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071014", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "U2-type catalytic step 1 spliceosome", "id": "GO:0071006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071006", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "DNA replication factor A complex", "id": "GO:0005662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005662", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "U2-type catalytic step 2 spliceosome", "id": "GO:0071007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071007", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "Prp19 complex", "id": "GO:0000974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000974", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "post-spliceosomal complex", "id": "GO:0071020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071020", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "U12-type catalytic step 2 spliceosome", "id": "GO:0071018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071018", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" } ], "biological_process": [ { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "119", "end_pos": "119", "site_lbl": "Ser119", "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": 119, "start_aa": "Ser", "end_pos": 119, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser119", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q922V4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922V4" }, { "id": "Q922V4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922V4" } ] } ], "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Ser125", "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": 125, "start_aa": "Ser", "end_pos": 125, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser125", "evidence": [ { "id": "36852467", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36852467" }, { "id": "Q922V4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q922V4" }, { "id": "Q922V4", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q922V4" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "72", "end_pos": "72", "site_lbl": "Asn72", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G15664MX", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "EKGPQNATDSYPHK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 72, "start_aa": "Asn", "end_pos": 72, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn72", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Ser200", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ] } ] }, { "uniprot_canonical_ac": "Q922V4-1", "start_pos": "390", "end_pos": "390", "site_lbl": "Ser390", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q922V4", "url": "https://www.uniprot.org/uniprotkb/Q922V4" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q6PEB6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 225, "chemical_mass": 26032.0, "gene_names": "Mob4;2610109B12Rik;Mob3;Mob4;Mobkl3;Phocn;Prei3", "protein_name": "MOB-like protein phocein", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "FAR/SIN/STRIPAK complex", "id": "GO:0090443", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090443", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-macromolecule adaptor activity", "id": "GO:0030674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030674", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" }, { "name": "kinase binding", "id": "GO:0019900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019900", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of hippo signaling", "id": "GO:0035331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035331", "evidence": [ { "database": "UniProtKB", "id": "Q6PEB6", "url": "https://www.uniprot.org/uniprotkb/Q6PEB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9JK91-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JK91", "url": "https://www.uniprot.org/uniprotkb/Q9JK91" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 760, "chemical_mass": 84670.0, "gene_names": "Mlh1;1110035C23Rik;Mlh1", "protein_name": "DNA mismatch repair protein Mlh1", "disease": [ { "disease_id": "DOID:0050465", "name": "Muir-Torre syndrome", "description": "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.", "url": "https://disease-ontology.org/term/DOID:0050465", "evidence": [ { "id": "0050465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050465" } ], "weight": 0.0 }, { "disease_id": "DOID:0070274", "name": "hereditary nonpolyposis colorectal cancer type 2", "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2.", "url": "https://disease-ontology.org/term/DOID:0070274", "evidence": [ { "id": "0070274", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070274" } ], "weight": 0.0 }, { "disease_id": "DOID:0112182", "name": "mismatch repair cancer syndrome", "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively.", "url": "https://disease-ontology.org/term/DOID:0112182", "evidence": [ { "id": "0112182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112182" } ], "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: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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the 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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542988005" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "145", "end_pos": "145", "site_lbl": "Ser145", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148688164", "evidence": [ { "id": "rs3542978761", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542978761" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Ala169", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148688237", "evidence": [ { "id": "rs3542970248", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542970248" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "172", "end_pos": "172", "site_lbl": "Val172", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148688245", "evidence": [ { "id": "rs3395052193", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395052193" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "186", "end_pos": "186", "site_lbl": "Gly186", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148690048", "evidence": [ { "id": "rs3543004819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543004819" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "205", "end_pos": "205", "site_lbl": "Tyr205", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148690107", "evidence": [ { "id": "rs3388734422", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734422" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "27", "end_pos": "27", "site_lbl": "Phe27", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148687200", "evidence": [ { "id": "rs3388731625", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731625" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "29", "end_pos": "29", "site_lbl": "Arg29", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148687205", "evidence": [ { "id": "rs3388731576", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731576" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Pro307", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148692427", "evidence": [ { "id": "rs3388730585", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730585" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "317", "end_pos": "317", "site_lbl": "Ile317", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148692459", "evidence": [ { "id": "rs3394782203", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394782203" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148692458", "evidence": [ { "id": "rs3394782255", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394782255" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "318", "end_pos": "318", "site_lbl": "Tyr318", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148692461", "evidence": [ { "id": "rs3388734873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734873" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Lys321", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148692469", "evidence": [ { "id": "rs3395076555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395076555" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "324", "end_pos": "324", "site_lbl": "Phe324", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148692479", "evidence": [ { "id": "rs3388732424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388732424" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "356", "end_pos": "356", "site_lbl": "Arg356", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148694632", "evidence": [ { "id": "rs3388739051", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388739051" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "362", "end_pos": "362", "site_lbl": "Ser362", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148694650", "evidence": [ { "id": "rs3388708660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708660" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Pro36", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148687226", "evidence": [ { "id": "rs3388734899", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388734899" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "378", "end_pos": "378", "site_lbl": "Asp378", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148696538", "evidence": [ { "id": "rs3543056064", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543056064" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Glu384", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148696554", "evidence": [ { "id": "rs3394909532", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394909532" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "393", "end_pos": "393", "site_lbl": "Gln393", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148696581", "evidence": [ { "id": "rs3388720080", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388720080" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "454", "end_pos": "454", "site_lbl": "Asp454", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698280", "evidence": [ { "id": "rs3388731618", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388731618" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "490", "end_pos": "490", "site_lbl": "Met490", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698388", "evidence": [ { "id": "rs3543072116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543072116" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Glu516", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698467", "evidence": [ { "id": "rs3543197710", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543197710" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Gly546", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698556", "evidence": [ { "id": "rs3394796704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3394796704" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Gly54", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148687280", "evidence": [ { "id": "rs3388727564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388727564" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "555", "end_pos": "555", "site_lbl": "Arg555", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698583", "evidence": [ { "id": "rs3543144965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543144965" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "599", "end_pos": "599", "site_lbl": "Thr599", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698715", "evidence": [ { "id": "rs3388708653", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388708653" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Ala600", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698718", "evidence": [ { "id": "rs3395127977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395127977" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "604", "end_pos": "604", "site_lbl": "Lys604", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698731", "evidence": [ { "id": "rs3388730601", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388730601" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "612", "end_pos": "612", "site_lbl": "Ser612", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698755", "evidence": [ { "id": "rs3543056340", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543056340" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "618", "end_pos": "618", "site_lbl": "Ala618", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698773", "evidence": [ { "id": "rs3388727553", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388727553" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "622", "end_pos": "622", "site_lbl": "Thr622", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698784", "evidence": [ { "id": "rs3543004862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543004862" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698785", "evidence": [ { "id": "rs3411928362", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411928362" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "635", "end_pos": "635", "site_lbl": "Ala635", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/lecin-associated proteins/masp.", "chr_id": "4", "chr_pos": "148698823", "evidence": [ { "id": "rs3542978979", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3542978979" } ] } ] }, { "uniprot_canonical_ac": "Q91WP0-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Gly649", 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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:11123", "name": "IgA vasculitis", "description": "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection.", "url": "https://disease-ontology.org/term/DOID:11123", "evidence": [ { "id": "11123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11123" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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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: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": 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"url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q9JJ26", "url": "https://www.uniprot.org/uniprotkb/Q9JJ26" } ], "pmid": "" }, { "name": "negative regulation of cytokine production involved in inflammatory response", "id": "GO:1900016", "url": 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"504", "end_pos": "504", "site_lbl": "Asp504", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (DGS->NGS); glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349208", "evidence": [ { "id": "rs3388614031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614031" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Gln109", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339913", "evidence": [ { "id": "rs3388614032", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614032" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "121", "end_pos": "121", "site_lbl": "Gln121", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339949", "evidence": [ { "id": "rs3388611542", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611542" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Val137", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164341747", "evidence": [ { "id": "rs3388611882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611882" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "162", "end_pos": "162", "site_lbl": "Lys162", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164341823", "evidence": [ { "id": "rs3388600758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600758" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Leu17", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339528", "evidence": [ { "id": "rs3388595234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595234" } ] }, { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339528", "evidence": [ { "id": "rs3388595234", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595234" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Ile254", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343067", "evidence": [ { "id": "rs3411268570", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411268570" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "26", "end_pos": "26", "site_lbl": "Cys26", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339555", "evidence": [ { "id": "rs3392539370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3392539370" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "28", "end_pos": "28", "site_lbl": "Glu28", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339560", "evidence": [ { "id": "rs3388611965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611965" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "30", "end_pos": "30", "site_lbl": "Pro30", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339566", "evidence": [ { "id": "rs3388613087", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388613087" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Asn332", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343521", "evidence": [ { "id": "rs3388595211", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595211" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Arg344", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343556", "evidence": [ { "id": "rs27331905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27331905" } ] }, { "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164343557", "evidence": [ { "id": "rs226433875", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs226433875" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "361", "end_pos": "361", "site_lbl": "Tyr361", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344434", "evidence": [ { "id": "rs3388611564", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611564" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "372", "end_pos": "372", "site_lbl": "Leu372", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344467", "evidence": [ { "id": "rs3388600776", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388600776" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Leu397", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344541", "evidence": [ { "id": "rs3388613067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388613067" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "416", "end_pos": "416", "site_lbl": "Ser416", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344599", "evidence": [ { "id": "rs3388595251", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388595251" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Pro422", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344616", "evidence": [ { "id": "rs218262059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218262059" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164344616", "evidence": [ { "id": "rs218262059", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs218262059" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Leu431", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164348347", "evidence": [ { "id": "rs3388608086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608086" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "435", "end_pos": "435", "site_lbl": "Leu435", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164348359", "evidence": [ { "id": "rs3388614074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614074" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Leu438", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164348369", "evidence": [ { "id": "rs3388614960", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614960" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Gly46", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339614", "evidence": [ { "id": "rs3388614907", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614907" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "502", "end_pos": "502", "site_lbl": "Val502", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349202", "evidence": [ { "id": "rs3388614029", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388614029" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "505", "end_pos": "505", "site_lbl": "Gly505", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349211", "evidence": [ { "id": "rs27331881", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs27331881" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "523", "end_pos": "523", "site_lbl": "Thr523", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349266", "evidence": [ { "id": "rs3388602244", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388602244" } ] }, { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349265", "evidence": [ { "id": "rs3388607268", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388607268" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "528", "end_pos": "528", "site_lbl": "Met528", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349282", "evidence": [ { "id": "rs3388611494", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611494" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "52", "end_pos": "52", "site_lbl": "Phe52", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339632", "evidence": [ { "id": "rs3388611370", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611370" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "538", "end_pos": "538", "site_lbl": "Thr538", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349311", "evidence": [ { "id": "rs3388608112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388608112" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Cys543", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349325", "evidence": [ { "id": "rs3388606946", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388606946" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "561", "end_pos": "561", "site_lbl": "Lys561", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349380", "evidence": [ { "id": "rs3388611299", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388611299" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "566", "end_pos": "566", "site_lbl": "Ala566", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164349394", "evidence": [ { "id": "rs5525816324", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5525816324" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "63", "end_pos": "63", "site_lbl": "Gln63", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, gpi anchor biosynthesis related.", "chr_id": "2", "chr_pos": "164339667", "evidence": [ { "id": "rs3388602319", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388602319" } ] } ] }, { "uniprot_canonical_ac": "Q8BXQ2-1", "start_pos": "96", "end_pos": "96", "site_lbl": "Gly96", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: 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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:3049", "name": "Churg-Strauss syndrome", "description": "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding.", "url": "https://disease-ontology.org/term/DOID:3049", "evidence": [ { "id": "3049", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3049" } ], "weight": 0.0 }, { "disease_id": "DOID:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:4031", "name": "eosinophilic gastroenteritis", "description": "", "url": "https://disease-ontology.org/term/DOID:4031", "evidence": [ { "id": "4031", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4031" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:4483", "name": "rhinitis", "description": "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. 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"GO:0031737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031737", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "CCR chemokine receptor binding", "id": "GO:0048020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048020", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "CCR3 chemokine receptor binding", "id": "GO:0031728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031728", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" } ], "biological_process": [ { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "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": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "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": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "cell chemotaxis", "id": "GO:0060326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060326", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "T cell chemotaxis", "id": "GO:0010818", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010818", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "positive regulation of chemotaxis", "id": "GO:0050921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050921", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" }, { "name": "eosinophil chemotaxis", "id": "GO:0048245", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048245", "evidence": [ { "database": "UniProtKB", "id": "F8VQM2", "url": "https://www.uniprot.org/uniprotkb/F8VQM2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "J3QPX0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 416, "chemical_mass": 47508.0, "gene_names": "5730507C01Rik;5730507C01Rik", "protein_name": "", "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": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "pmid": "" }, { "name": "regulation of immune system process", "id": "GO:0002682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002682", "evidence": [ { "database": "UniProtKB", "id": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "pmid": "" }, { "name": "regulation of cytokine production", "id": "GO:0001817", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001817", "evidence": [ { "database": "UniProtKB", "id": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "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": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "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": "J3QPX0", "url": "https://www.uniprot.org/uniprotkb/J3QPX0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "J3QPX0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Thr179", "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": 179, "start_aa": "Thr", "end_pos": 179, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr179", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "J3QPX0-1", "start_pos": "106", "end_pos": "106", "site_lbl": "Ala106", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NLA->NLT).", "chr_id": "12", "chr_pos": "18581728", "evidence": [ { "id": "rs223517116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs223517116" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "K7N6V1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N6V1", "url": "https://www.uniprot.org/uniprotkb/K7N6V1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 857, "chemical_mass": 98060.0, "gene_names": "Vmn2r117;EG619788;V2Rp6;Vmn2r117", "protein_name": "", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "K7N6V1", "url": "https://www.uniprot.org/uniprotkb/K7N6V1" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "K7N6V1", "url": "https://www.uniprot.org/uniprotkb/K7N6V1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "L7N270-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7N270", "url": "https://www.uniprot.org/uniprotkb/L7N270" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 307, "chemical_mass": 34602.0, "gene_names": "Vmn1r123;Gm1446;Vmn1r123", "protein_name": "Vomeronasal type-1 receptor", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7N270", "url": "https://www.uniprot.org/uniprotkb/L7N270" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "L7N270", "url": "https://www.uniprot.org/uniprotkb/L7N270" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "L7N270", "url": "https://www.uniprot.org/uniprotkb/L7N270" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "L7N270", "url": "https://www.uniprot.org/uniprotkb/L7N270" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "L7N270", "url": "https://www.uniprot.org/uniprotkb/L7N270" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "A0A075B5T4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A075B5T4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5T4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 117, "chemical_mass": 13109.0, "gene_names": "Ighv1-4", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5T4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5T4" } ], "pmid": "" }, { "name": "immunoglobulin complex", "id": "GO:0019814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019814", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5T4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5T4" } ], "pmid": "" } ], "molecular_function": [ { "name": "antigen binding", "id": "GO:0003823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003823", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5T4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5T4" } ], "pmid": "" } ], "biological_process": [ { "name": "immunoglobulin mediated immune response", "id": "GO:0016064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016064", "evidence": [ { "database": "UniProtKB", "id": "A0A075B5T4", "url": "https://www.uniprot.org/uniprotkb/A0A075B5T4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "A0A0A6YW72-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YW72", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YW72" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 3346, "chemical_mass": 365661.0, "gene_names": "Dchs2;Dchs2;EG627094;Gm417;Gm6731", "protein_name": "", "disease": [ { "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": "nephron development", "id": "GO:0072006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072006", "evidence": [ { "database": "UniProtKB", "id": "A0A0A6YW72", "url": "https://www.uniprot.org/uniprotkb/A0A0A6YW72" } ], "pmid": "" 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"https://www.ebi.ac.uk/QuickGO/term/GO:0007229", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "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": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "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": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "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": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor signaling pathway", "id": "GO:0035235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035235", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], 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"https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "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": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "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": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "cellular defense response", "id": "GO:0006968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006968", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "long-term synaptic depression", "id": "GO:0060292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060292", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "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": "Q9QVP9", "url": "https://www.uniprot.org/uniprotkb/Q9QVP9" } ], "pmid": "" }, { "name": 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"url": "https://www.uniprot.org/uniprotkb/Q3U0D9" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q3U0D9", "url": "https://www.uniprot.org/uniprotkb/Q3U0D9" } ], "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": "Q3U0D9", "url": "https://www.uniprot.org/uniprotkb/Q3U0D9" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q3U0D9", "url": "https://www.uniprot.org/uniprotkb/Q3U0D9" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "Q3U0D9", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "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": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "urogenital system development", "id": "GO:0001655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001655", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q60848", "url": "https://www.uniprot.org/uniprotkb/Q60848" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": 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"https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "response to corticosterone", "id": "GO:0051412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051412", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of protein oligomerization", "id": "GO:0032461", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032461", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of intracellular estrogen receptor signaling pathway", "id": "GO:0033148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033148", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "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": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "lysosome localization", "id": "GO:0032418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032418", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "aggrephagy", "id": "GO:0035973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035973", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein deacetylation", "id": "GO:0006476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006476", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein targeting to vacuole involved in autophagy", "id": "GO:0071211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071211", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein quality control for misfolded or incompletely synthesized proteins", "id": "GO:0006515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006515", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cellular response to misfolded protein", "id": "GO:0071218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071218", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of microtubule cytoskeleton organization", "id": "GO:0070507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070507", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of cholangiocyte proliferation", "id": "GO:1904056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904056", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of axon extension involved in axon guidance", "id": "GO:0048843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048843", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "response to misfolded protein", "id": "GO:0051788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051788", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of establishment of protein localization", "id": "GO:0070201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070201", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of hydrogen peroxide metabolic process", "id": "GO:0010727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010727", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cellular response to topologically incorrect protein", "id": "GO:0035967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035967", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway", "id": "GO:0043162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043162", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex disassembly", "id": "GO:0043242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043242", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "regulation of microtubule-based movement", "id": "GO:0060632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060632", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "type 2 mitophagy", "id": "GO:0061734", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061734", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "aggresome assembly", "id": "GO:0070842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070842", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "polyubiquitinated misfolded protein transport", "id": "GO:0070845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070845", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "Hsp90 deacetylation", "id": "GO:0070846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070846", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "tubulin deacetylation", "id": "GO:0090042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090042", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of protein acetylation", "id": "GO:1901984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901984", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of type 2 mitophagy", "id": "GO:1905091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905091", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein deacylation", "id": "GO:0035601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035601", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein-containing complex disassembly", "id": "GO:0032984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032984", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "membraneless organelle assembly", "id": "GO:0140694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140694", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cilium disassembly", "id": "GO:0061523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061523", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "positive regulation of cellular response to oxidative stress", "id": "GO:1900409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900409", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "erythrocyte enucleation", "id": "GO:0043131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043131", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "negative regulation of aggrephagy", "id": "GO:1905336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "polyubiquitin modification-dependent protein binding", "id": "GO:0031593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031593", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "tau protein binding", "id": "GO:0048156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048156", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "deacetylase activity", "id": "GO:0019213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019213", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "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": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "dynein complex binding", "id": "GO:0070840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070840", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ubiquitin binding", "id": "GO:0043130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043130", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "Hsp90 protein binding", "id": "GO:0051879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051879", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "histone deacetylase activity", "id": "GO:0004407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004407", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "alpha-tubulin binding", "id": "GO:0043014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043014", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ATPase inhibitor activity", "id": "GO:0042030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042030", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "misfolded protein binding", "id": "GO:0051787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051787", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "protein lysine deacetylase activity", "id": "GO:0033558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033558", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "peroxidase inhibitor activity", "id": "GO:0036479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036479", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "tubulin deacetylase activity", "id": "GO:0042903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042903", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cell body", "id": "GO:0044297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044297", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "microtubule associated complex", "id": "GO:0005875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005875", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "axon cytoplasm", "id": "GO:1904115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904115", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "cytoplasmic ubiquitin ligase complex", "id": "GO:0000153", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000153", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", "url": "https://www.uniprot.org/uniprotkb/Q9Z2V5" } ], "pmid": "" }, { "name": "histone deacetylase complex", "id": "GO:0000118", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000118", "evidence": [ { "database": "UniProtKB", "id": "Q9Z2V5", 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"id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "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": "Q811D0", "url": "https://www.uniprot.org/uniprotkb/Q811D0" } ], "pmid": "" }, { "name": "protein localization to synapse", "id": "GO:0035418", "url": 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The neonatal-onset forms are usually fatal.", "url": "https://disease-ontology.org/term/DOID:0060358", "evidence": [ { "id": "0060358", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060358" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "mitochondrial electron transfer flavoprotein complex", "id": "GO:0017133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017133", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q9DCW4", "url": "https://www.uniprot.org/uniprotkb/Q9DCW4" } ], "pmid": "" }, { 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The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.", "url": "https://disease-ontology.org/term/DOID:0060558", "evidence": [ { "id": "0060558", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060558" } ], "weight": 0.0 }, { "disease_id": "DOID:0110197", "name": "Charcot-Marie-Tooth disease dominant intermediate B", "description": "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2).", "url": "https://disease-ontology.org/term/DOID:0110197", "evidence": [ { "id": "0110197", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110197" } ], "weight": 0.0 }, { "disease_id": "DOID:0111223", "name": "centronuclear myopathy 1", "description": "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.", "url": "https://disease-ontology.org/term/DOID:0111223", "evidence": [ { "id": "0111223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111223" } ], "weight": 0.0 }, { "disease_id": "DOID:11252", "name": "microcytic anemia", "description": "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear.", "url": "https://disease-ontology.org/term/DOID:11252", "evidence": [ { "id": "11252", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11252" } ], "weight": 0.0 }, { "disease_id": "DOID:14717", "name": "centronuclear myopathy", "description": "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery.", "url": "https://disease-ontology.org/term/DOID:14717", "evidence": [ { "id": "14717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14717" } ], "weight": 0.0 }, { "disease_id": "DOID:2975", "name": "cystic kidney disease", "description": "A kidney disease that is characterized by the formation of cysts (fluid-filled sacs) in and around the kidney.", "url": "https://disease-ontology.org/term/DOID:2975", "evidence": [ { "id": "2975", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2975" } ], "weight": 0.0 }, { "disease_id": "DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness.", "url": "https://disease-ontology.org/term/DOID:423", "evidence": [ { "id": "423", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:423" } ], "weight": 0.0 }, { "disease_id": "DOID:854", "name": "collagen disease", "description": "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.", "url": "https://disease-ontology.org/term/DOID:854", "evidence": [ { "id": "854", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:854" } ], "weight": 0.0 } ], "biological_process": [ { "name": "membrane tubulation", "id": "GO:0097749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097749", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "actin filament bundle organization", "id": "GO:0061572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061572", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "receptor internalization", "id": "GO:0031623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031623", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "phagocytosis", "id": "GO:0006909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006909", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "G protein-coupled receptor internalization", "id": "GO:0002031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002031", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "regulation of axon extension", "id": "GO:0030516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030516", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of phagocytosis", "id": "GO:0050766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050766", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of substrate adhesion-dependent cell spreading", "id": "GO:1900026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900026", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "centrosome cycle", "id": "GO:0007098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007098", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "regulation of Rac protein signal transduction", "id": "GO:0035020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035020", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of lamellipodium assembly", "id": "GO:0010592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010592", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "stress fiber assembly", "id": "GO:0043149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043149", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "macropinocytosis", "id": "GO:0044351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044351", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "protein polymerization", "id": "GO:0051258", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051258", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "transferrin transport", "id": "GO:0033572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033572", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "synaptic vesicle budding from presynaptic endocytic zone membrane", "id": "GO:0016185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016185", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "Golgi to plasma membrane transport", "id": "GO:0006893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006893", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "synaptic vesicle endocytosis", "id": "GO:0048488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048488", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of clathrin-dependent endocytosis", "id": "GO:2000370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000370", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "negative regulation of non-motile cilium assembly", "id": "GO:1902856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902856", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "regulation of Golgi organization", "id": "GO:1903358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903358", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "positive regulation of P-type sodium:potassium-exchanging transporter activity", "id": "GO:1903408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903408", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "negative regulation of membrane tubulation", "id": "GO:1903526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903526", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "vesicle scission", "id": "GO:0099050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099050", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "postsynaptic endocytosis", "id": "GO:0140239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140239", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "clathrin-coated pit", "id": "GO:0005905", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005905", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "lamellipodium", "id": "GO:0030027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030027", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "podosome", "id": "GO:0002102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002102", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "clathrin-coated vesicle", "id": "GO:0030136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030136", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "P39054", "url": "https://www.uniprot.org/uniprotkb/P39054" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": 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"database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" }, { "name": "kinesin complex", "id": "GO:0005871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005871", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" } ], "biological_process": [ { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GSG7", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GSG7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "A0A1B0GSG7-1", "start_pos": "723", "end_pos": "723", "site_lbl": "Ser723", "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": 723, "start_aa": "Ser", "end_pos": 723, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser723", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "A0A1B0GSG7", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A1B0GSG7" }, { "id": "A0A1B0GSG7", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/A0A1B0GSG7" } ] } ] }, { "uniprot_canonical_ac": "A0A1B0GSG7-1", "start_pos": "726", "end_pos": "726", "site_lbl": "Ser726", "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": 726, "start_aa": "Ser", "end_pos": 726, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser726", "evidence": [ { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": 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"evidence": [ { "database": "UniProtKB", "id": "M0QW81", "url": "https://www.uniprot.org/uniprotkb/M0QW81" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 27188.0, "gene_names": "Gm3488;100041735;100041747;Gm3488;Gm3494", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "P28776-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 407, "chemical_mass": 45641.0, "gene_names": "Ido1;Ido1;Ido;Indo", "protein_name": "Indoleamine 2,3-dioxygenase 1", "disease": [ { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by 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The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9123", "name": "eczema herpeticum", "description": "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 (Simplexvirus humanalpha1) or 2 (Simplexvirus humanalpha2). 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"P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "L-tryptophan catabolic process to kynurenine", "id": "GO:0019441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019441", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "quinolinate biosynthetic process", "id": "GO:0019805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019805", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "swimming behavior", "id": "GO:0036269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036269", "evidence": [ { "database": "UniProtKB", "id": "P28776", "url": "https://www.uniprot.org/uniprotkb/P28776" } ], "pmid": "" }, { "name": "negative regulation of activated T cell proliferation", "id": "GO:0046007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046007", "evidence": [ { "database": 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"evidence": [ { "id": "rs3406855614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406855614" } ] }, { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776405", "evidence": [ { "id": "rs262676579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262676579" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "311", "end_pos": "311", "site_lbl": "Pro311", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776403", "evidence": [ { "id": "rs3389427497", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389427497" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "312", "end_pos": 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"comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776364", "evidence": [ { "id": "rs3389410889", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389410889" } ] } ], "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Reduces enzyme activity.", "evidence": [ { "database": "UniProtKB", "id": "Q3U4G3", "url": "https://www.uniprot.org/uniprotkb/Q3U4G3" }, { "database": "PubMed", "id": "26414444", "url": "https://glygen.org/publication/PubMed/26414444" } ] } ] }, { "uniprot_canonical_ac": "Q3U4G3-1", "start_pos": "326", "end_pos": "326", "site_lbl": "His326", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "16", "chr_pos": "30776358", "evidence": [ { "id": "rs3389413676", "database": "dbSNP", "url": 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functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:14118", "name": "familial lipoprotein lipase deficiency", "description": "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides.", "url": "https://disease-ontology.org/term/DOID:14118", "evidence": [ { "id": "14118", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14118" } ], "weight": 0.0 }, { "disease_id": "DOID:14221", "name": "abdominal obesity-metabolic syndrome 1", "description": "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events.", "url": "https://disease-ontology.org/term/DOID:14221", "evidence": [ { "id": "14221", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14221" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of adipose tissue development", "id": "GO:1904179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904179", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "retinoid metabolic process", "id": "GO:0001523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001523", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "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": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "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": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "response to bacterium", "id": "GO:0009617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009617", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "high-density lipoprotein particle remodeling", "id": "GO:0034375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034375", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of macrophage derived foam cell differentiation", "id": "GO:0010744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010744", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "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": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "chylomicron remodeling", "id": "GO:0034371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034371", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "triglyceride catabolic process", "id": "GO:0019433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019433", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle remodeling", "id": "GO:0034372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034372", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "very-low-density lipoprotein particle clearance", "id": "GO:0034447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034447", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "triglyceride homeostasis", "id": "GO:0070328", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070328", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "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": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of cholesterol storage", "id": "GO:0010886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010886", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "low-density lipoprotein particle mediated signaling", "id": "GO:0055096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055096", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "cellular response to fatty acid", "id": "GO:0071398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071398", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 2 production", "id": "GO:2000343", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000343", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "negative regulation of cellular response to insulin stimulus", "id": "GO:1900077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900077", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" } ], "molecular_function": [ { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "apolipoprotein binding", "id": "GO:0034185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034185", "evidence": [ { "database": "UniProtKB", "id": "P11152", "url": "https://www.uniprot.org/uniprotkb/P11152" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "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: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:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain 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: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). 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If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years.", "url": "https://disease-ontology.org/term/DOID:4166", "evidence": [ { "id": "4166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4166" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:639", "name": "acute disseminated encephalomyelitis", "description": "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. 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The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma.", "url": "https://disease-ontology.org/term/DOID:643", "evidence": [ { "id": "643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:643" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8869", "name": "neuromyelitis optica", "description": "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis).", "url": "https://disease-ontology.org/term/DOID:8869", "evidence": [ { "id": "8869", "database": "AGR", "url": 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"8712", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8712" } ], "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 } ], "biological_process": [ { "name": "regulation of bone resorption", "id": "GO:0045124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045124", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of Ras protein signal transduction", "id": "GO:0046580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046580", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "hair follicle maturation", "id": "GO:0048820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048820", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "spinal cord development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "extracellular matrix organization", "id": "GO:0030198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030198", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of blood vessel endothelial cell migration", "id": "GO:0043535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043535", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cognition", "id": "GO:0050890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050890", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of protein kinase activity", "id": "GO:0006469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006469", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "collagen fibril organization", "id": "GO:0030199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030199", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of neuron differentiation", "id": "GO:0045664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045664", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001241", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of protein import into nucleus", "id": "GO:0042308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042308", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of intracellular signal transduction", "id": "GO:1902531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902531", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "myelination in peripheral nervous system", "id": "GO:0022011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of angiogenesis", "id": "GO:0045765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045765", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of MAP kinase activity", "id": "GO:0043407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043407", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "adrenal gland development", "id": "GO:0030325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030325", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of neurotransmitter secretion", "id": "GO:0046929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046929", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "sympathetic nervous system development", "id": "GO:0048485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048485", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "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": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of Rac protein signal transduction", "id": "GO:0035021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035021", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of MAPK cascade", "id": "GO:0043409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043409", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of osteoclast differentiation", "id": "GO:0045671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045671", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "positive regulation of adenylate cyclase activity", "id": "GO:0045762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045762", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q04690", "url": "https://www.uniprot.org/uniprotkb/Q04690" } ], "pmid": "" }, { 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"UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle contraction", "id": "GO:0045987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045987", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "cell growth involved in cardiac muscle cell development", "id": "GO:0061049", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061049", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "smooth muscle cell differentiation", "id": "GO:0051145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051145", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "digestive tract development", "id": "GO:0048565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048565", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "ductus arteriosus closure", "id": "GO:0097070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097070", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell differentiation", "id": "GO:2000727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000727", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle hypertrophy", "id": "GO:0010613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010613", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell migration", "id": "GO:1904754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904754", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "muscle cell differentiation", "id": "GO:0042692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042692", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "regulation of smooth muscle cell differentiation", "id": "GO:0051150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051150", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "regulation of myoblast differentiation", "id": "GO:0045661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045661", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "negative regulation of skeletal muscle cell differentiation", "id": "GO:2001015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001015", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "cardiac vascular smooth muscle cell differentiation", "id": "GO:0060947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060947", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell differentiation", "id": "GO:0055012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055012", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "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": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "urinary bladder development", "id": "GO:0060157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060157", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "RNA polymerase II-specific DNA-binding transcription factor binding", "id": "GO:0061629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061629", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "R-SMAD binding", "id": "GO:0070412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070412", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": 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No effect on SRF activation, on interaction with EP300 and on SM-promoter activation; when associated with A-859; A-866 and A-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-859; D-866 and D-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] }, { "uniprot_canonical_ac": "Q8VIM5-1", "start_pos": "859", "end_pos": "859", "site_lbl": "Ser859", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "iPTMnet", "id": "Q8VIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on SRF activation; No effect on SRF activation. No effect on SRF activation, on interaction with EP300 and on SM-promoter activation; when associated with A-812, A-866 and A-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-812; D-866 and D-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] }, { "uniprot_canonical_ac": "Q8VIM5-1", "start_pos": "866", "end_pos": "866", "site_lbl": "Ser866", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "iPTMnet", "id": "Q8VIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No effect on SRF activation; No effect on SRF activation, on interaction with EP300 and on SM-promoter activation; when associated with A-812; A-859 and A-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-812; D-859 and D-893.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] }, { "uniprot_canonical_ac": "Q8VIM5-1", "start_pos": "893", "end_pos": "893", "site_lbl": "Thr893", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "iPTMnet", "id": "Q8VIM5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "No effect on SRF activation; No effect on SRF activation, on interaction with EP300 and on SM-specific genes transcription; when associated with A-812; A-859 and A-866.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "No effect on SRF activation. Impairs SRF activation, reduces interaction with EP300 and SM-promoter activation; when associated with D-812; D-859 and D-866.", "evidence": [ { "database": "UniProtKB", "id": "Q8VIM5", "url": "https://www.uniprot.org/uniprotkb/Q8VIM5" }, { "database": "PubMed", "id": "19776005", "url": "https://glygen.org/publication/PubMed/19776005" } ] } ] } ], "record_id": "batch.mouse.15" }, { "uniprot_canonical_ac": "Q9WTI7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1063, "chemical_mass": 121944.0, "gene_names": "Myo1c;MMIb;MYO1E;Myo1c;NMI;mm1beta;myr2", "protein_name": "Unconventional myosin-Ic", "disease": [], "biological_process": [ { "name": "positive regulation of cellular response to insulin stimulus", "id": "GO:1900078", "url": 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polymerase III", "id": "GO:0045945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045945", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cellular response to type II interferon", "id": "GO:0071346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "vesicle transport along actin filament", "id": "GO:0030050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030050", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of actin filament polymerization", "id": "GO:0030838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase I", "id": "GO:0045943", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045943", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "vascular endothelial growth factor signaling pathway", "id": "GO:0038084", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038084", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "regulation of bicellular tight junction assembly", "id": "GO:2000810", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000810", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "microfilament motor activity", "id": "GO:0000146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000146", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9WTI7", "url": "https://www.uniprot.org/uniprotkb/Q9WTI7" } ], "pmid": "" }, { "name": "brush border", "id": "GO:0005903", "url": 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"https://www.alliancegenome.org/disease/DOID:1577" } ], "weight": 0.0 }, { "disease_id": "DOID:1580", "name": "diffuse scleroderma", "description": "", "url": "https://disease-ontology.org/term/DOID:1580", "evidence": [ { "id": "1580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1580" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.", "url": "https://disease-ontology.org/term/DOID:264", "evidence": [ { "id": "264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:264" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3179", "name": "inverted papilloma", "description": "", "url": "https://disease-ontology.org/term/DOID:3179", "evidence": [ { "id": "3179", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3179" } ], "weight": 0.0 }, { "disease_id": "DOID:3192", "name": "neurilemmoma", "description": "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells.", "url": "https://disease-ontology.org/term/DOID:3192", "evidence": [ { "id": "3192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3192" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "weight": 0.0 }, { "disease_id": "DOID:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "weight": 0.0 }, { "disease_id": "DOID:4448", "name": "macular degeneration", "description": "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss.", "url": "https://disease-ontology.org/term/DOID:4448", "evidence": [ { "id": "4448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4448" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4511", "name": "breast angiosarcoma", "description": "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area.", "url": "https://disease-ontology.org/term/DOID:4511", "evidence": [ { "id": "4511", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4511" } ], "weight": 0.0 }, { "disease_id": "DOID:4905", "name": "pancreatic carcinoma", "description": "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas.", "url": "https://disease-ontology.org/term/DOID:4905", "evidence": [ { "id": "4905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4905" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "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:7736", "name": "retinal telangiectasia", "description": "", "url": "https://disease-ontology.org/term/DOID:7736", "evidence": [ { "id": "7736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7736" } ], "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:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901532", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell surface receptor protein tyrosine kinase signaling pathway", "id": "GO:0007169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007169", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "surfactant homeostasis", "id": "GO:0043129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043129", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive 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"https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "regulation of endothelial cell proliferation", "id": "GO:0001936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001936", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of focal adhesion assembly", "id": "GO:0051894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051894", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0032008", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "regulation of cell shape", "id": "GO:0008360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008360", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endothelial tube morphogenesis", "id": "GO:0061154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061154", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "ovarian follicle development", "id": "GO:0001541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001541", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "negative regulation of systemic arterial blood pressure", "id": "GO:0003085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003085", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive 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"https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye morphogenesis", "id": "GO:0048597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048597", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endochondral bone growth", "id": "GO:0003416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003416", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endothelium development", "id": "GO:0003158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003158", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vascular wound healing", "id": "GO:0061042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061042", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor-2 signaling pathway", "id": "GO:0036324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036324", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of long-term neuronal synaptic 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of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial fission", "id": "GO:0090141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090141", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "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": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of positive chemotaxis", "id": "GO:0050927", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050927", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "blood vessel endothelial cell differentiation", "id": "GO:0060837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060837", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endothelial cell differentiation", "id": "GO:0045446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045446", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "cellular response to hydrogen sulfide", "id": "GO:1904881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904881", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide-cGMP mediated signal transduction", "id": "GO:0141150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141150", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35918", "url": "https://www.uniprot.org/uniprotkb/P35918" } ], "pmid": "" 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"chr_id": "5", "chr_pos": "76104655", "evidence": [ { "id": "rs3388767819", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767819" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1129", "end_pos": "1129", "site_lbl": "Thr1129", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104598", "evidence": [ { "id": "rs3388765297", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388765297" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1136", "end_pos": "1136", "site_lbl": "Thr1136", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104192", "evidence": [ { "id": "rs3388765262", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388765262" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1155", "end_pos": "1155", "site_lbl": "Val1155", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104136_76104137insACTACCTCAACCATCAC", "evidence": [ { "id": "rs3388770481", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388770481" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1157", "end_pos": "1157", "site_lbl": "His1157", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76104129", "evidence": [ { "id": "rs3388767541", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767541" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1176", "end_pos": "1176", "site_lbl": "Leu1176", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76102600", "evidence": [ { "id": "rs231250602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs231250602" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1230", "end_pos": "1230", "site_lbl": "Arg1230", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76097566", "evidence": [ { "id": "rs3388755890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388755890" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "129", "end_pos": "129", "site_lbl": "Ala129", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129500", "evidence": [ { "id": "rs245385122", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs245385122" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1313", "end_pos": "1313", "site_lbl": "Asp1313", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76095182", "evidence": [ { "id": "rs3388762780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762780" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "1339", "end_pos": "1339", "site_lbl": "Thr1339", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76095106", "evidence": [ { "id": "rs3388751954", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751954" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "142", "end_pos": "142", "site_lbl": "Glu142", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129461", "evidence": [ { "id": "rs3388762470", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762470" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129462", "evidence": [ { "id": "rs3388767951", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767951" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "149", "end_pos": "149", "site_lbl": "Val149", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129441", "evidence": [ { "id": "rs252289174", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs252289174" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "182", "end_pos": "182", "site_lbl": "Asp182", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129101", "evidence": [ { "id": "rs5527163676", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527163676" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "187", "end_pos": "187", "site_lbl": "Phe187", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129085", "evidence": [ { "id": "rs3388758962", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758962" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "200", "end_pos": "200", "site_lbl": "Val200", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76129047", "evidence": [ { "id": "rs3388774070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388774070" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "20", "end_pos": "20", "site_lbl": "Ala20", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76138770", "evidence": [ { "id": "rs249543830", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249543830" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Glu253", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76128379", "evidence": [ { "id": "rs3388749416", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749416" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Ser298", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76127096", "evidence": [ { "id": "rs3395399721", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395399721" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76127051", "evidence": [ { "id": "rs3395770398", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395770398" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Leu341", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125560", "evidence": [ { "id": "rs3388759358", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388759358" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "342", "end_pos": "342", "site_lbl": "Val342", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125558", "evidence": [ { "id": "rs3388767496", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767496" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ser348", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125539", "evidence": [ { "id": "rs3388749423", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749423" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "373", "end_pos": "373", "site_lbl": "Ile373", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125378", "evidence": [ { "id": "rs3388758923", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388758923" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Ile380", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125357", "evidence": [ { "id": "rs3395087841", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395087841" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "384", "end_pos": "384", "site_lbl": "Glu384", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76125346", "evidence": [ { "id": "rs3388751988", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388751988" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "38", "end_pos": "38", "site_lbl": "Lys38", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76135111", "evidence": [ { "id": "rs3388767965", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767965" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Pro423", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123521", "evidence": [ { "id": "rs3388759300", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388759300" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "425", "end_pos": "425", "site_lbl": "Ile425", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123515", "evidence": [ { "id": "rs3388767463", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767463" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Ser432", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123494", "evidence": [ { "id": "rs3395742615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395742615" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Pro433", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123490", "evidence": [ { "id": "rs3388762534", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388762534" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "434", "end_pos": "434", "site_lbl": "Met434", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123488", "evidence": [ { "id": "rs5527124349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527124349" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "452", "end_pos": "452", "site_lbl": "Asn452", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123432", "evidence": [ { "id": "rs5527231308", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs5527231308" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "459", "end_pos": "459", "site_lbl": "Gln459", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123413", "evidence": [ { "id": "rs3388772787", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772787" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "462", "end_pos": "462", "site_lbl": "Trp462", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123402", "evidence": [ { "id": "rs3388767998", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388767998" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "467", "end_pos": "467", "site_lbl": "Ala467", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123388", "evidence": [ { "id": "rs3388749421", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388749421" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "472", "end_pos": "472", "site_lbl": "Pro472", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", "chr_pos": "76123374", "evidence": [ { "id": "rs3388772838", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388772838" } ] } ] }, { "uniprot_canonical_ac": "P35918-1", "start_pos": "488", "end_pos": "488", "site_lbl": "Asp488", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene,.", "chr_id": "5", 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